ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.502A>T (p.Thr168Ser)

dbSNP: rs2073890274
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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 RCV001367591 SCV001563946 uncertain significance X-linked myopathy with postural muscle atrophy 2022-06-20 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 152 of the FHL1 protein (p.Thr152Ser). 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: 1058447). 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.
Revvity Omics, Revvity RCV003145628 SCV003831011 uncertain significance not provided 2022-03-08 criteria provided, single submitter clinical testing

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