ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.1821TCC[14] (p.Pro618_Pro620dup)

dbSNP: rs3075570
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652770 SCV000774641 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2020-11-12 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. 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. This variant has not been reported in the literature in individuals with DIAPH1-related disease. ClinVar contains an entry for this variant (Variation ID: 542361). This variant is not present in population databases (ExAC no frequency). This variant, c.1845_1853dupTCCTCCTCC, results in the insertion of 3 amino acids to the DIAPH1 protein (p.Pro618_Pro620dup), but otherwise preserves the integrity of the reading frame.
PreventionGenetics, part of Exact Sciences RCV003918079 SCV004732173 likely benign DIAPH1-related disorder 2019-06-26 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Ambry Genetics RCV004025885 SCV004857586 likely benign Inborn genetic diseases 2023-10-26 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.
Breakthrough Genomics, Breakthrough Genomics RCV004692047 SCV005188643 uncertain significance not provided criteria provided, single submitter not provided

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