ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.818T>C (p.Phe273Ser)

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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 RCV003060833 SCV003455845 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2023-10-25 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 273 of the DHTKD1 protein (p.Phe273Ser). This variant is present in population databases (rs553049198, gnomAD 0.06%). 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: 2147314). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV003060834 SCV003692798 uncertain significance Inborn genetic diseases 2021-10-27 criteria provided, single submitter clinical testing The c.818T>C (p.F273S) alteration is located in exon 5 (coding exon 5) of the DHTKD1 gene. This alteration results from a T to C substitution at nucleotide position 818, causing the phenylalanine (F) at amino acid position 273 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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