ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.268C>T (p.Pro90Ser)

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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 RCV002609074 SCV002966118 uncertain significance X-linked myopathy with postural muscle atrophy 2022-03-14 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.005%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with FHL1-related conditions. This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 74 of the FHL1 protein (p.Pro74Ser).

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