ClinVar Miner

Submissions for variant NM_001318895.3(FHL2):c.29G>A (p.Cys10Tyr)

dbSNP: rs1682328689
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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 RCV001373025 SCV001569723 uncertain significance Primary dilated cardiomyopathy 2020-03-18 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FHL2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with tyrosine at codon 10 of the FHL2 protein (p.Cys10Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine.

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