ClinVar Miner

Submissions for variant NM_001318895.3(FHL2):c.56A>G (p.Tyr19Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003076458 SCV003449370 uncertain significance Primary dilated cardiomyopathy 2022-06-26 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 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 affected with FHL2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 19 of the FHL2 protein (p.Tyr19Cys).
Ambry Genetics RCV004917817 SCV005582795 uncertain significance not specified 2024-10-03 criteria provided, single submitter clinical testing The c.56A>G (p.Y19C) alteration is located in exon 4 (coding exon 1) of the FHL2 gene. This alteration results from a A to G substitution at nucleotide position 56, causing the tyrosine (Y) at amino acid position 19 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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