ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.356G>T (p.Gly119Val)

dbSNP: rs1556638919
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593287 SCV000702593 uncertain significance not provided 2016-10-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001854013 SCV002168555 uncertain significance X-linked myopathy with postural muscle atrophy 2021-05-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with FHL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 497860). 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with valine at codon 103 of the FHL1 protein (p.Gly103Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine.
GeneDx RCV000593287 SCV005080869 uncertain significance not provided 2023-12-11 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; In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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