ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.866G>C (p.Cys289Ser)

dbSNP: rs1603273709
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788586 SCV000927743 uncertain significance not provided 2018-06-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002535782 SCV003203387 uncertain significance X-linked myopathy with postural muscle atrophy 2023-05-20 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 636681). This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 273 of the FHL1 protein (p.Cys273Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (Invitae). 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. 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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