ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.1769G>A (p.Gly590Asp)

dbSNP: rs189809247
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000307219 SCV000343746 uncertain significance not provided 2016-08-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859700 SCV002225110 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2021-01-01 criteria provided, single submitter clinical testing This variant is present in population databases (rs189809247, ExAC 0.07%). 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DIAPH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 289391). This sequence change replaces glycine with aspartic acid at codon 590 of the DIAPH1 protein (p.Gly590Asp). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and aspartic acid.

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