ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.1243G>A (p.Gly415Ser)

gnomAD frequency: 0.00004  dbSNP: rs150855952
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634870 SCV000756224 uncertain significance Isovaleryl-CoA dehydrogenase deficiency 2022-02-10 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 418 of the IVD protein (p.Gly418Ser). This variant is present in population databases (rs150855952, gnomAD 0.01%). This missense change has been observed in individual(s) with a positive newborn screening result for IVD-related disease (Invitae). ClinVar contains an entry for this variant (Variation ID: 203784). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Natera, Inc. RCV000634870 SCV002094420 uncertain significance Isovaleryl-CoA dehydrogenase deficiency 2019-01-22 no assertion criteria provided clinical testing

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