ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.3425G>A (p.Arg1142Gln)

gnomAD frequency: 0.00001  dbSNP: rs200419320
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001346032 SCV001540193 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2023-05-21 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1042130). This variant has not been reported in the literature in individuals affected with DIAPH1-related conditions. This variant is present in population databases (rs200419320, gnomAD 0.005%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1142 of the DIAPH1 protein (p.Arg1142Gln).
GeneDx RCV003238862 SCV003936589 uncertain significance not provided 2022-12-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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