ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.340T>A (p.Ser114Thr)

gnomAD frequency: 0.00003  dbSNP: rs756434530
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208015 SCV000263934 uncertain significance Primary familial hypertrophic cardiomyopathy 2015-06-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000686661 SCV000814189 uncertain significance X-linked myopathy with postural muscle atrophy 2022-06-15 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 98 of the FHL1 protein (p.Ser98Thr). This variant is present in population databases (rs756434530, gnomAD 0.02%). 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: 222634). 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 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.
Ambry Genetics RCV002433915 SCV002752404 uncertain significance Cardiovascular phenotype 2022-04-03 criteria provided, single submitter clinical testing The p.S98T variant (also known as c.292T>A), located in coding exon 2 of the FHL1 gene, results from a T to A substitution at nucleotide position 292. The serine at codon 98 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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