ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.498C>G (p.Cys166Trp)

dbSNP: rs145445372
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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 RCV001214185 SCV001385856 likely pathogenic X-linked myopathy with postural muscle atrophy 2023-07-26 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Cys150 amino acid residue in FHL1. Other variant(s) that disrupt this residue have been observed in individuals with FHL1-related conditions (PMID: 19171836, 20571991, 23169582, 25191266), which suggests that this may be a clinically significant amino acid residue. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 943902). This missense change has been observed in individual(s) with X-linked dominant FHL1-related conditions (Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with tryptophan, which is neutral and slightly polar, at codon 150 of the FHL1 protein (p.Cys150Trp).

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