ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.3526T>G (p.Tyr1176Asp)

gnomAD frequency: 0.00001  dbSNP: rs777028943
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000998461 SCV001154548 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000998461 SCV001714156 uncertain significance not provided 2020-09-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549091 SCV003035303 uncertain significance Charcot-Marie-Tooth disease type 4 2022-09-26 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 809819). This missense change has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (Invitae). This variant is present in population databases (rs777028943, gnomAD 0.003%). This sequence change replaces tyrosine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 1176 of the SH3TC2 protein (p.Tyr1176Asp).
3billion RCV003152741 SCV003841637 uncertain significance Charcot-Marie-Tooth disease type 4C 2023-02-23 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.001%). Protein truncation variants are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.75; 3Cnet: 0.90). This variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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