ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.13717A>C (p.Asn4573His)

gnomAD frequency: 0.00326  dbSNP: rs34382952
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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000254363 SCV000225021 likely benign not specified 2016-03-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000254363 SCV000312148 likely benign not specified criteria provided, single submitter clinical testing
Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde RCV000515968 SCV000574498 uncertain significance Hereditary spastic paraplegia 2017-03-07 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV000488235 SCV000574947 likely benign not provided 2025-03-01 criteria provided, single submitter clinical testing SACS: BS2
Athena Diagnostics RCV000254363 SCV000614938 benign not specified 2023-10-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082378 SCV000629455 likely benign Spastic paraplegia 2025-01-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000674768 SCV001268887 uncertain significance Charlevoix-Saguenay spastic ataxia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab RCV000674768 SCV001653434 likely benign Charlevoix-Saguenay spastic ataxia 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000488235 SCV001780154 likely benign not provided 2021-04-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23280630, 22162184, 22287014, 19779133, 28832565)
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000674768 SCV001976726 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-08-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV000515968 SCV002104990 likely benign Hereditary spastic paraplegia 2020-12-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000254363 SCV003923058 likely benign not specified 2024-12-09 criteria provided, single submitter clinical testing Variant summary: SACS c.13717A>C (p.Asn4573His) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0044 in 1613956 control chromosomes, predominantly at a frequency of 0.0054 within the Non-Finnish European subpopulation in the gnomAD database (v.4.1), including 20 homozygotes. This suggests the variant is likely a benign polymorphism. c.13717A>C has been reported in the literature, primarily in the heterozygous state and in settings of multigene panel testing, in individuals affected with ataxias and other movement disorders, without strong evidence for causality (e.g. Vermeer_2009, Fogel_2012, Morais_2017, Martinez-Rubio_2022, OGorman_2019). These reports do not provide unequivocal conclusions about association of the variant with Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 22287014, 36233161, 28832565, 31519934, 19779133). ClinVar contains an entry for this variant (Variation ID: 193707). Based on the evidence outlined above, the variant was classified as likely benign
Molecular Genetics, Royal Melbourne Hospital RCV000674768 SCV004812827 likely benign Charlevoix-Saguenay spastic ataxia 2023-05-04 criteria provided, single submitter clinical testing European Non-Finnish population allele frequency is 0.4833% (rs34382952, 655/128756 alleles, 2 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.5.1, this variant is classified as LIKELY BENIGN. Following criteria are met: BS1
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research RCV000674768 SCV005061869 likely pathogenic Charlevoix-Saguenay spastic ataxia 2022-01-01 criteria provided, single submitter research
Counsyl RCV000674768 SCV000800161 benign Charlevoix-Saguenay spastic ataxia 2018-05-23 no assertion criteria provided clinical testing This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.
Mayo Clinic Laboratories, Mayo Clinic RCV000488235 SCV000802121 uncertain significance not provided 2016-03-15 no assertion criteria provided clinical testing
Natera, Inc. RCV000674768 SCV001453882 likely benign Charlevoix-Saguenay spastic ataxia 2020-01-02 no assertion criteria provided clinical testing

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