ClinVar Miner

Submissions for variant NM_005216.5(DDOST):c.712G>A (p.Val238Ile)

gnomAD frequency: 0.00046  dbSNP: rs150551993
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002051106 SCV002108882 uncertain significance Congenital disorder of glycosylation type Ir 2023-12-06 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 255 of the DDOST protein (p.Val255Ile). This variant is present in population databases (rs150551993, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with DDOST-related conditions. ClinVar contains an entry for this variant (Variation ID: 1349560). 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 DDOST 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 RCV004038846 SCV003750162 uncertain significance not specified 2021-12-15 criteria provided, single submitter clinical testing The c.763G>A (p.V255I) alteration is located in exon 7 (coding exon 7) of the DDOST gene. This alteration results from a G to A substitution at nucleotide position 763, causing the valine (V) at amino acid position 255 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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