ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter)

gnomAD frequency: 0.00001  dbSNP: rs80338932
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001223054 SCV001395186 pathogenic Charcot-Marie-Tooth disease type 4 2024-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr943*) in the SH3TC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SH3TC2 are known to be pathogenic (PMID: 20220177, 27068304). This variant is present in population databases (rs80338932, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with autosomal recessive Charcot-Marie-Tooth disease (PMID: 14574644). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 2481). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV001310527 SCV001500373 pathogenic not provided 2021-01-01 criteria provided, single submitter clinical testing
Mendelics RCV000002585 SCV002519724 pathogenic Charcot-Marie-Tooth disease type 4C 2022-05-04 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000002585 SCV003798452 pathogenic Charcot-Marie-Tooth disease type 4C 2023-02-07 criteria provided, single submitter clinical testing
OMIM RCV000002585 SCV000022743 pathogenic Charcot-Marie-Tooth disease type 4C 2003-11-01 no assertion criteria provided literature only
GeneReviews RCV000002585 SCV000041491 not provided Charcot-Marie-Tooth disease type 4C no assertion provided literature only

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