ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.253G>A (p.Ala85Thr)

gnomAD frequency: 0.00003  dbSNP: rs139625615
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000646185 SCV000767944 uncertain significance X-linked myopathy with postural muscle atrophy 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 69 of the FHL1 protein (p.Ala69Thr). 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: 537354). 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"). 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 RCV002422347 SCV002725112 uncertain significance Cardiovascular phenotype 2022-04-11 criteria provided, single submitter clinical testing The p.A69T variant (also known as c.205G>A), located in coding exon 2 of the FHL1 gene, results from a G to A substitution at nucleotide position 205. The alanine at codon 69 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.
Revvity Omics, Revvity RCV003144425 SCV003831012 uncertain significance not provided 2019-06-06 criteria provided, single submitter clinical testing

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