ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.283C>T (p.Leu95Phe)

dbSNP: rs541695222
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001220969 SCV001392984 uncertain significance Charcot-Marie-Tooth disease type 4 2022-07-18 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SH3TC2 protein function. ClinVar contains an entry for this variant (Variation ID: 949500). This missense change has been observed in individual(s) with clinical features of SH3TC2-related conditions (Invitae). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 95 of the SH3TC2 protein (p.Leu95Phe).
GeneDx RCV001773497 SCV002001837 uncertain significance not provided 2020-02-16 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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