ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.817G>A (p.Val273Met)

gnomAD frequency: 0.00005  dbSNP: rs190006104
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689527 SCV000817181 uncertain significance X-linked myopathy with postural muscle atrophy 2024-12-24 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 257 of the FHL1 protein (p.Val257Met). This variant is present in population databases (rs190006104, gnomAD 0.006%). 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: 569001). 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.
Revvity Omics, Revvity RCV003144503 SCV003832584 uncertain significance not provided 2023-03-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163133 SCV003859295 uncertain significance Cardiovascular phenotype 2024-08-20 criteria provided, single submitter clinical testing The c.769G>A (p.V257M) alteration is located in exon 7 (coding exon 5) of the FHL1 gene. This alteration results from a G to A substitution at nucleotide position 769, causing the valine (V) at amino acid position 257 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004756009 SCV005366734 uncertain significance FHL1-related disorder 2024-05-17 no assertion criteria provided clinical testing The FHL1 c.817G>A variant is predicted to result in the amino acid substitution p.Val273Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0053% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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