ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.3574+6G>C

gnomAD frequency: 0.00010  dbSNP: rs538555634
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000602632 SCV000731578 uncertain significance not specified 2017-04-13 criteria provided, single submitter clinical testing The c.3574+6G>C variant in DIAPH1 has not been previously reported in individual s with hearing loss, but has been identified in 13/30782 South Asian chromosomes by the Genome Aggregation Database (gnomAD,; d bSNP rs538555634). This variant is located in the 5' splice region. Computationa l tools do not suggest an impact to splicing. However, this information is not p redictive enough to rule out pathogenicity. In summary, the clinical significanc e of the c.3574+6G>C variant is uncertain.
Invitae RCV001043216 SCV001206936 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-01-04 criteria provided, single submitter clinical testing This sequence change falls in intron 26 of the DIAPH1 gene. It does not directly change the encoded amino acid sequence of the DIAPH1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs538555634, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with DIAPH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 517343). 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.

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