ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.920C>T (p.Ser307Phe)

gnomAD frequency: 0.00001  dbSNP: rs777908204
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335927 SCV001529187 uncertain significance Charcot-Marie-Tooth disease axonal type 2Q 2018-03-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001871879 SCV002183671 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2024-10-15 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 307 of the DHTKD1 protein (p.Ser307Phe). This variant is present in population databases (rs777908204, gnomAD 0.007%). 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: 1033500). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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.

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