ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2009A>G (p.Asn670Ser)

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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 RCV002592297 SCV003500305 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2023-11-24 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 670 of the DHTKD1 protein (p.Asn670Ser). This variant is present in population databases (rs762399216, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (PMID: 33369814). ClinVar contains an entry for this variant (Variation ID: 2182988). 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 expected to disrupt DHTKD1 protein function with a positive predictive value of 80%. 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 RCV002611130 SCV003735834 uncertain significance Inborn genetic diseases 2021-08-23 criteria provided, single submitter clinical testing The c.2009A>G (p.N670S) alteration is located in exon 11 (coding exon 11) of the DHTKD1 gene. This alteration results from a A to G substitution at nucleotide position 2009, causing the asparagine (N) at amino acid position 670 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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