ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.530A>G (p.His177Arg)

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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 RCV003033552 SCV003320556 uncertain significance X-linked myopathy with postural muscle atrophy 2022-02-20 criteria provided, single submitter clinical testing 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 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with FHL1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.008%). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 161 of the FHL1 protein (p.His161Arg).
Ambry Genetics RCV004617153 SCV005115890 uncertain significance Cardiovascular phenotype 2024-04-19 criteria provided, single submitter clinical testing The p.H161R variant (also known as c.482A>G), located in coding exon 3 of the FHL1 gene, results from an A to G substitution at nucleotide position 482. The histidine at codon 161 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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