ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.4795C>T (p.His1599Tyr)

gnomAD frequency: 0.00001  dbSNP: rs766418499
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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 RCV001063889 SCV001228756 uncertain significance Familial focal epilepsy with variable foci 2024-03-04 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 1599 of the DEPDC5 protein (p.His1599Tyr). This variant is present in population databases (rs766418499, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with DEPDC5-related conditions. ClinVar contains an entry for this variant (Variation ID: 858084). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001509091 SCV001715615 uncertain significance not provided 2019-05-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030513 SCV004856314 uncertain significance Inborn genetic diseases 2023-09-20 criteria provided, single submitter clinical testing The c.4795C>T (p.H1599Y) alteration is located in exon 43 (coding exon 42) of the DEPDC5 gene. This alteration results from a C to T substitution at nucleotide position 4795, causing the histidine (H) at amino acid position 1599 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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