ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.2032C>T (p.Pro678Ser)

gnomAD frequency: 0.00030  dbSNP: rs186370335
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000281485 SCV000453371 likely benign Autosomal dominant nonsyndromic hearing loss 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000652776 SCV000774647 benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001613157 SCV001833810 benign not provided 2019-10-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30245029, 22938506, 23967202, 25262649)
Ambry Genetics RCV002520326 SCV003583845 likely benign Inborn genetic diseases 2021-12-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003970019 SCV004780546 benign DIAPH1-related disorder 2019-08-26 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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