ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.118C>G (p.Leu40Val)

dbSNP: rs1160675914
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001899836 SCV002122562 uncertain significance Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 2021-06-16 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with valine at codon 40 of the TPM3 protein (p.Leu40Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant has not been reported in the literature in individuals with TPM3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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