ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.307G>T (p.Ala103Ser)

gnomAD frequency: 0.00011  dbSNP: rs35442324
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994349 SCV001147821 likely benign not provided 2021-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001858785 SCV002261325 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 103 of the DHTKD1 protein (p.Ala103Ser). This variant is present in population databases (rs35442324, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 806435). 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 with a negative 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 RCV002549866 SCV003699847 uncertain significance Inborn genetic diseases 2022-09-06 criteria provided, single submitter clinical testing The c.307G>T (p.A103S) alteration is located in exon 2 (coding exon 2) of the DHTKD1 gene. This alteration results from a G to T substitution at nucleotide position 307, causing the alanine (A) at amino acid position 103 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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