ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.379+4C>T

gnomAD frequency: 0.00003  dbSNP: rs769453769
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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 RCV001056405 SCV001220847 uncertain significance X-linked myopathy with postural muscle atrophy 2022-03-11 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the FHL1 gene. It does not directly change the encoded amino acid sequence of the FHL1 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of FHL1-related conditions (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 851897). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Ambry Genetics RCV002451230 SCV002611572 uncertain significance Cardiovascular phenotype 2023-04-17 criteria provided, single submitter clinical testing The c.331+4C>T intronic variant results from a C to T substitution 4 nucleotides after coding exon 2 in the FHL1 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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