ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.863A>T (p.Tyr288Phe)

gnomAD frequency: 0.00001  dbSNP: rs760214177
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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 RCV001304864 SCV001494168 uncertain significance X-linked myopathy with postural muscle atrophy 2024-01-09 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 272 of the FHL1 protein (p.Tyr272Phe). This variant is present in population databases (rs760214177, 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: 1007647). 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. Experimental studies have shown that this missense change affects FHL1 function (PMID: 29434030). 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.
GeneDx RCV001557467 SCV001779234 likely benign not provided 2021-06-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)

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