ClinVar Miner

Submissions for variant NM_001042517.2(DIAPH3):c.1808G>A (p.Arg603Gln)

gnomAD frequency: 0.00028  dbSNP: rs200231889
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001547606 SCV001767354 likely benign not provided 2020-08-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001547606 SCV002283956 uncertain significance not provided 2022-11-15 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1187982). This variant has not been reported in the literature in individuals affected with DIAPH3-related conditions. This variant is present in population databases (rs200231889, gnomAD 0.04%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 603 of the DIAPH3 protein (p.Arg603Gln). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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 RCV004039283 SCV004857613 uncertain significance not specified 2024-04-26 criteria provided, single submitter clinical testing The c.1808G>A (p.R603Q) alteration is located in exon 16 (coding exon 16) of the DIAPH3 gene. This alteration results from a G to A substitution at nucleotide position 1808, causing the arginine (R) at amino acid position 603 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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