ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser) (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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000263325 SCV000338505 uncertain significance not provided 2016-01-22 criteria provided, single submitter clinical testing
Invitae RCV000822468 SCV000963270 pathogenic Myopathy with postural muscle atrophy, X-linked 2020-07-01 criteria provided, single submitter clinical testing This sequence change replaces cysteine with serine at codon 255 of the FHL1 protein (p.Cys255Ser). The cysteine residue is moderately conserved and there is a moderate physicochemical difference between cysteine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with Emery-Dreifuss muscular dystrophy and hypertrophic cardiomyopathy in a family (PMID: 26857240) and with distal myopathy and hypertrophic cardiomyopathy in a different family (PMID: 25246303). ClinVar contains an entry for this variant (Variation ID: 222635). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). 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 Myopathy with postural muscle atrophy, X-linked 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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