ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1853T>A (p.Ile618Asn)

gnomAD frequency: 0.00002  dbSNP: rs761295635
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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 RCV002001864 SCV002217429 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2022-11-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 618 of the DHTKD1 protein (p.Ile618Asn). This variant is present in population databases (rs761295635, gnomAD 0.005%). ClinVar contains an entry for this variant (Variation ID: 1435537). 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. 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 RCV003167385 SCV003880577 uncertain significance Inborn genetic diseases 2023-01-31 criteria provided, single submitter clinical testing The c.1853T>A (p.I618N) alteration is located in exon 10 (coding exon 10) of the DHTKD1 gene. This alteration results from a T to A substitution at nucleotide position 1853, causing the isoleucine (I) at amino acid position 618 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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