ClinVar Miner

Submissions for variant NM_001042517.2(DIAPH3):c.156G>T (p.Glu52Asp)

dbSNP: rs202198529
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001535003 SCV001751977 likely benign not provided 2020-08-10 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 RCV001535003 SCV002120547 uncertain significance not provided 2024-05-08 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 52 of the DIAPH3 protein (p.Glu52Asp). This variant is present in population databases (rs202198529, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with DIAPH3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1178659). 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 tolerated. 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.
Ambry Genetics RCV004039239 SCV003696972 uncertain significance not specified 2022-03-16 criteria provided, single submitter clinical testing The c.156G>T (p.E52D) alteration is located in exon 1 (coding exon 1) of the DIAPH3 gene. This alteration results from a G to T substitution at nucleotide position 156, causing the glutamic acid (E) at amino acid position 52 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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