ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.644G>A (p.Arg215His)

gnomAD frequency: 0.00002  dbSNP: rs886043053
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000271938 SCV000338176 uncertain significance not provided 2015-12-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001351448 SCV001545919 uncertain significance X-linked myopathy with postural muscle atrophy 2024-07-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 199 of the FHL1 protein (p.Arg199His). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FHL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 285237). 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 tolerated. 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.
GeneDx RCV000271938 SCV001987968 uncertain significance not provided 2019-11-05 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign in a peer reviewed article to our knowledge
AiLife Diagnostics, AiLife Diagnostics RCV000271938 SCV002502462 uncertain significance not provided 2021-09-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356380 SCV002658353 uncertain significance Cardiovascular phenotype 2024-03-04 criteria provided, single submitter clinical testing The p.R199H variant (also known as c.596G>A), located in coding exon 4 of the FHL1 gene, results from a G to A substitution at nucleotide position 596. The arginine at codon 199 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002502126 SCV002796310 uncertain significance Myopathy, reducing body, X-linked, childhood-onset; Myopathy, reducing body, X-linked, early-onset, severe; X-linked myopathy with postural muscle atrophy; Uruguay Faciocardiomusculoskeletal syndrome; X-linked scapuloperoneal muscular dystrophy 2021-12-21 criteria provided, single submitter clinical testing

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