ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser)

gnomAD frequency: 0.00001  dbSNP: rs869025431
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208197 SCV000263935 likely pathogenic Primary familial hypertrophic cardiomyopathy 2015-11-06 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000263325 SCV000338505 uncertain significance not provided 2016-01-22 criteria provided, single submitter clinical testing
Invitae RCV000822468 SCV000963270 pathogenic X-linked myopathy with postural muscle atrophy 2024-01-20 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 255 of the FHL1 protein (p.Cys255Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Emery-Dreifuss muscular dystrophy, hypertrophic cardiomyopathy, and distal myopathy (PMID: 25246303, 26857240). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 222635). 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. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000263325 SCV001774078 likely pathogenic not provided 2021-04-09 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID#222635; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 33673806, 29926425, 25965631, 26857240, 25246303)
GenomeConnect, ClinGen RCV000822468 SCV001423261 not provided X-linked myopathy with postural muscle atrophy no assertion provided phenotyping only Variant interpretted as Likely pathogenic and reported on 01-11-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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