ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.891A>C (p.Ter297Tyr)

dbSNP: rs2073968496
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001044959 SCV001208785 uncertain significance X-linked myopathy with postural muscle atrophy 2022-03-18 criteria provided, single submitter clinical testing 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. This variant results in an extension of the FHL1 protein. Other variant(s) that result in a similarly extended protein product (p.*281Gluext*52) have been observed in individuals with FHL1-related disease (PMID: 19716112). This suggests that these extensions may be clinically significant. ClinVar contains an entry for this variant (Variation ID: 842529). This variant has not been reported in the literature in individuals affected with FHL1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change disrupts the translational stop signal of the FHL1 mRNA. It is expected to extend the length of the FHL1 protein by 52 additional amino acid residues.

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