ClinVar Miner

Submissions for variant NM_003859.3(DPM1):c.685A>G (p.Ile229Val)

gnomAD frequency: 0.00007  dbSNP: rs559946698
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000685067 SCV000812539 uncertain significance Congenital disorder of glycosylation type 1E 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 229 of the DPM1 protein (p.Ile229Val). This variant is present in population databases (rs559946698, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with DPM1-related conditions. ClinVar contains an entry for this variant (Variation ID: 565495). 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 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.
Baylor Genetics RCV000685067 SCV001524632 uncertain significance Congenital disorder of glycosylation type 1E 2019-11-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV000685067 SCV002812276 uncertain significance Congenital disorder of glycosylation type 1E 2021-08-04 criteria provided, single submitter clinical testing
GeneDx RCV003329324 SCV004036799 uncertain significance not provided 2023-03-20 criteria provided, single submitter clinical testing Reported as a de novo variant in an individual with schizophrenia, but additional clinical information was not included (Fromer et al., 2014); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25420024, 30323833, 34145229, 24463507)

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