ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.300G>C (p.Leu100=)

dbSNP: rs547319575
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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 RCV001070526 SCV001235777 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2022-06-25 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. ClinVar contains an entry for this variant (Variation ID: 863535). This variant has not been reported in the literature in individuals affected with DIAPH1-related conditions. This variant is present in population databases (rs547319575, gnomAD 0.007%). This sequence change affects codon 100 of the DIAPH1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DIAPH1 protein. This variant also falls at the last nucleotide of exon 3, which is part of the consensus splice site for this exon.

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