ClinVar Miner

Submissions for variant NM_001042517.2(DIAPH3):c.3397G>A (p.Ala1133Thr)

dbSNP: rs188721921
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001550393 SCV001770712 likely benign not provided 2021-04-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001550393 SCV002283149 uncertain significance not provided 2022-06-05 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1189868). This variant has not been reported in the literature in individuals affected with DIAPH3-related conditions. This variant is present in population databases (rs188721921, gnomAD 0.02%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1133 of the DIAPH3 protein (p.Ala1133Thr). 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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