ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.404G>C (p.Gly135Ala)

dbSNP: rs886042453
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001229189 SCV001401627 uncertain significance X-linked myopathy with postural muscle atrophy 2023-07-30 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 956396). 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. 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. This variant has not been reported in the literature in individuals affected with FHL1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 119 of the FHL1 protein (p.Gly119Ala).
GeneDx RCV002466645 SCV002762143 uncertain significance not provided 2022-06-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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