ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.379+1G>A

dbSNP: rs2073866799
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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 RCV001035786 SCV001199121 pathogenic X-linked myopathy with postural muscle atrophy 2019-11-18 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 4 of the FHL1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has been observed in individual(s) with clinical features of FHL1-related conditions (Invitae). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in FHL1 are known to be pathogenic (PMID: 18179888, 19687455, 19716112, 22523091, 24114807). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies.

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