ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1258C>T (p.Arg420Cys)

gnomAD frequency: 0.00002  dbSNP: rs762746645
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001936458 SCV002206672 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2023-11-14 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 420 of the DHTKD1 protein (p.Arg420Cys). This variant is present in population databases (rs762746645, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1428737). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DHTKD1 protein function with a negative predictive value of 80%. 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 RCV002561395 SCV003695387 uncertain significance Inborn genetic diseases 2024-05-07 criteria provided, single submitter clinical testing The c.1258C>T (p.R420C) alteration is located in exon 7 (coding exon 7) of the DHTKD1 gene. This alteration results from a C to T substitution at nucleotide position 1258, causing the arginine (R) at amino acid position 420 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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