ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.811T>C (p.Cys271Arg)

dbSNP: rs1569530825
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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 RCV000691527 SCV000819311 uncertain significance X-linked myopathy with postural muscle atrophy 2018-07-10 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). The p.Cys255 amino acid residue in FHL1 has been determined to be clinically significant (PMID: 25246303, 26857240). This suggests that variants that disrupt this residue are likely to be causative of disease. 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. This variant has not been reported in individuals affected with FHL1-related conditions. This sequence change replaces cysteine with arginine at codon 255 of the FHL1 protein (p.Cys255Arg). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and arginine. This variant is not present in population databases (ExAC no frequency).

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