ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.452T>A (p.Val151Asp)

dbSNP: rs2073887416
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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 RCV001343176 SCV001537140 uncertain significance X-linked myopathy with postural muscle atrophy 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces valine with aspartic acid at codon 135 of the FHL1 protein (p.Val135Asp). The valine residue is moderately conserved and there is a large physicochemical difference between valine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FHL1-related conditions. 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: "Possibly Damaging"; Align-GVGD: "Class C15"). 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.

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