ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1987_1988delinsAG (p.Ala663Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003643217 SCV004383010 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2022-12-29 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces alanine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 663 of the DHTKD1 protein (p.Ala663Arg). 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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.

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