ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.87G>A (p.Ala29=)

dbSNP: rs762960433
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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 RCV002041820 SCV002116132 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2021-05-17 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with DIAPH1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 29 of the DIAPH1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DIAPH1 protein.
Breakthrough Genomics, Breakthrough Genomics RCV004693783 SCV005188645 uncertain significance not provided criteria provided, single submitter not provided

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