ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2116C>T (p.Pro706Ser)

gnomAD frequency: 0.00001  dbSNP: rs763819099
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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 RCV003830195 SCV004631203 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2023-01-24 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. This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. This variant is present in population databases (rs763819099, gnomAD 0.01%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 706 of the DHTKD1 protein (p.Pro706Ser).
Ambry Genetics RCV004981069 SCV005565262 uncertain significance Inborn genetic diseases 2025-01-29 criteria provided, single submitter clinical testing The c.2116C>T (p.P706S) alteration is located in exon 12 (coding exon 12) of the DHTKD1 gene. This alteration results from a C to T substitution at nucleotide position 2116, causing the proline (P) at amino acid position 706 to be replaced by a serine (S). Based on data from gnomAD, the T allele has an overall frequency of 0.002% (4/251316) total alleles studied. The highest observed frequency was 0.012% (4/34570) of Latino alleles. This amino acid position is highly conserved in available vertebrate species. This alteration is predicted to be deleterious by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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