ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.1269A>G (p.Ile423Met)

dbSNP: rs778795541
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002232936 SCV000831597 uncertain significance Familial focal epilepsy with variable foci 2023-02-22 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 423 of the DEPDC5 protein (p.Ile423Met). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 579445). This variant has not been reported in the literature in individuals affected with DEPDC5-related conditions. This variant is present in population databases (rs778795541, gnomAD 0.0009%).
Ambry Genetics RCV002369940 SCV002687959 uncertain significance Inborn genetic diseases 2020-03-12 criteria provided, single submitter clinical testing The p.I423M variant (also known as c.1269A>G), located in coding exon 17 of the DEPDC5 gene, results from an A to G substitution at nucleotide position 1269. The isoleucine at codon 423 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003489829 SCV003834324 uncertain significance not provided 2020-12-25 criteria provided, single submitter clinical testing

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