ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.68G>T (p.Cys23Phe)

dbSNP: rs2073842039
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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 RCV001209274 SCV001380700 uncertain significance X-linked myopathy with postural muscle atrophy 2022-01-06 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 939820). This missense change has been observed in individual(s) with FHL1-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with phenylalanine, which is neutral and non-polar, at codon 7 of the FHL1 protein (p.Cys7Phe). 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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