ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.725A>G (p.Asn242Ser)

dbSNP: rs2073916017
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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 RCV001235773 SCV001408478 uncertain significance X-linked myopathy with postural muscle atrophy 2019-10-30 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FHL1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with serine at codon 226 of the FHL1 protein (p.Asn226Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine.

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