ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.841_844dup (p.Phe282fs)

dbSNP: rs1603273685
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734761 SCV000862929 likely pathogenic not provided 2018-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001219315 SCV001391248 pathogenic X-linked myopathy with postural muscle atrophy 2019-06-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant results in an extension of the FHL1 protein. Other variant(s) that result in a similarly extended protein product (p.Cys273Leufs*11) have been determined to be pathogenic (PMID: 19716112, 24634512). This suggests that these extensions are likely to be causative of disease. This variant has not been reported in the literature in individuals with FHL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 598380). This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the FHL1 gene (p.Phe266Cysfs*19). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 15 amino acids of the FHL1 protein and extend the protein by an additional 3 amino acids.

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