ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.965G>C (p.Gly322Ala)

gnomAD frequency: 0.00001  dbSNP: rs200814440
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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 RCV001955510 SCV002213763 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2021-11-28 criteria provided, single submitter clinical testing 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. This variant is present in population databases (rs200814440, gnomAD 0.007%). This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 322 of the DHTKD1 protein (p.Gly322Ala).
Ambry Genetics RCV002562119 SCV003555583 uncertain significance Inborn genetic diseases 2020-12-19 criteria provided, single submitter clinical testing The c.965G>C (p.G322A) alteration is located in exon 5 (coding exon 5) of the DHTKD1 gene. This alteration results from a G to C substitution at nucleotide position 965, causing the glycine (G) at amino acid position 322 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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