ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) (rs146920285)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082893 SCV000218575 likely benign Charcot-Marie-Tooth disease type 4 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000237055 SCV000292687 likely benign not specified 2017-08-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000237055 SCV000297314 uncertain significance not specified 2015-11-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000713265 SCV000339049 uncertain significance not provided 2016-01-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713265 SCV000843854 likely benign not provided 2018-06-14 criteria provided, single submitter clinical testing
Mendelics RCV000987610 SCV001136995 benign Charcot-Marie-Tooth disease, type 4C 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000713265 SCV001154547 uncertain significance not provided 2020-01-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000237055 SCV001158099 likely benign not specified 2018-09-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000987610 SCV001318730 uncertain significance Charcot-Marie-Tooth disease, type 4C 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.
Illumina Clinical Services Laboratory,Illumina RCV001157181 SCV001318731 uncertain significance Mononeuropathy of the median nerve, mild 2018-02-13 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Molecular Genetics Laboratory,London Health Sciences Centre RCV000789576 SCV001335908 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000713265 SCV001433771 likely benign not provided 2018-02-22 criteria provided, single submitter clinical testing The c.3686A>T; p.Asp1229Val variant (rs146920285) has been reported in the heterozygous state, in the absence of any other detected pathogenic SH3TC2 variants, in two HMSN I patients (Lassuthova 2011) and one CMT2 patient; however, the variant did not segregate with disease in the CMT family (Hoyer 2014). This variant is listed in the genome Aggregation Database (gnomAD) with a non-Finnish European population frequency of 0.4% (identified on 510 out of 126,418 chromosomes), in the Saudi Human Genome Program with a frequency of 2.6% (identified on 102 out of 3,920 chromosomes; Abouelhoda 2016), and is classified as likely benign/uncertain significance in ClinVar (ID: 188089). Based on the available information, the p.Asp1229Val variant is likely to be benign.
Inherited Neuropathy Consortium RCV000789576 SCV000928932 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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