ClinVar Miner

Submissions for variant NM_001042517.2(DIAPH3):c.1925C>G (p.Pro642Arg)

gnomAD frequency: 0.00005  dbSNP: rs369041383
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001591953 SCV001816211 uncertain significance not provided 2022-09-26 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015)
Labcorp Genetics (formerly Invitae), Labcorp RCV001591953 SCV003271867 uncertain significance not provided 2022-06-19 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 642 of the DIAPH3 protein (p.Pro642Arg). This variant is present in population databases (rs369041383, gnomAD 0.01%). 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: 1214832). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV004907719 SCV005566399 uncertain significance not specified 2024-08-14 criteria provided, single submitter clinical testing The c.1925C>G (p.P642R) alteration is located in exon 16 (coding exon 16) of the DIAPH3 gene. This alteration results from a C to G substitution at nucleotide position 1925, causing the proline (P) at amino acid position 642 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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