ClinVar Miner

Submissions for variant NM_001042517.2(DIAPH3):c.3125G>A (p.Arg1042His)

gnomAD frequency: 0.00035  dbSNP: rs200189161
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657950 SCV000779720 likely benign not provided 2020-11-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21220648, 23447461, 27068579)
Labcorp Genetics (formerly Invitae), Labcorp RCV000657950 SCV003282544 uncertain significance not provided 2024-05-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1042 of the DIAPH3 protein (p.Arg1042His). This variant is present in population databases (rs200189161, gnomAD 0.04%). This missense change has been observed in individual(s) with DIAPH3-related conditions (PMID: 27068579). ClinVar contains an entry for this variant (Variation ID: 546124). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.

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