ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.976A>G (p.Ile326Val)

gnomAD frequency: 0.00002  dbSNP: rs745602291
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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 RCV001890288 SCV002153989 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2023-05-13 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. 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. ClinVar contains an entry for this variant (Variation ID: 1382441). This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. This variant is present in population databases (rs745602291, gnomAD 0.003%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 326 of the DHTKD1 protein (p.Ile326Val).
Ambry Genetics RCV002552840 SCV003604249 uncertain significance Inborn genetic diseases 2022-01-27 criteria provided, single submitter clinical testing The c.976A>G (p.I326V) alteration is located in exon 5 (coding exon 5) of the DHTKD1 gene. This alteration results from a A to G substitution at nucleotide position 976, causing the isoleucine (I) at amino acid position 326 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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