ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.200C>T (p.Ser67Phe)

dbSNP: rs1327221666
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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 RCV001964274 SCV002250950 uncertain significance X-linked myopathy with postural muscle atrophy 2021-03-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with FHL1-related conditions. 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: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with phenylalanine at codon 51 of the FHL1 protein (p.Ser51Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine.

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