ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10821C>A (p.Ile3607=)

gnomAD frequency: 0.00447  dbSNP: rs113595574
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000226968 SCV000289947 benign Spastic paraplegia 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000516532 SCV000614924 benign not specified 2016-09-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001113446 SCV001271219 uncertain significance Charlevoix-Saguenay spastic ataxia 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV001689760 SCV001913102 benign not provided 2020-12-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001113446 SCV002026573 benign Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847970 SCV002104959 likely benign Hereditary spastic paraplegia 2021-06-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001113446 SCV001459477 benign Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing

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