ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.841G>A (p.Val281Met)

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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 RCV003863683 SCV004667302 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2023-03-29 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 not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 281 of the DHTKD1 protein (p.Val281Met).
Ambry Genetics RCV004614558 SCV005104460 uncertain significance Inborn genetic diseases 2024-04-06 criteria provided, single submitter clinical testing The c.841G>A (p.V281M) alteration is located in exon 5 (coding exon 5) of the DHTKD1 gene. This alteration results from a G to A substitution at nucleotide position 841, causing the valine (V) at amino acid position 281 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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