ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.554C>T (p.Ser185Leu)

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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 RCV002585178 SCV003492323 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2023-07-31 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: 2176728). This missense change has been observed in individual(s) with amyotrophic lateral sclerosis (PMID: 35052424). This variant is present in population databases (rs149544379, gnomAD 0.007%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 185 of the DHTKD1 protein (p.Ser185Leu).

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