ClinVar Miner

Submissions for variant NM_005216.5(DDOST):c.532A>G (p.Ile178Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002904762 SCV003260971 uncertain significance Congenital disorder of glycosylation type Ir 2022-08-31 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with DDOST-related conditions. This variant is present in population databases (rs777635772, gnomAD 0.05%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 195 of the DDOST protein (p.Ile195Val).
Ambry Genetics RCV004066301 SCV004068909 uncertain significance not specified 2023-06-21 criteria provided, single submitter clinical testing The c.583A>G (p.I195V) alteration is located in exon 5 (coding exon 5) of the DDOST gene. This alteration results from a A to G substitution at nucleotide position 583, causing the isoleucine (I) at amino acid position 195 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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