ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.684+3G>A

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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 RCV002881758 SCV003239826 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2022-09-28 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. 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. This sequence change falls in intron 7 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 (rs751063859, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with DIAPH1-related conditions.

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