ClinVar Miner

Submissions for variant NM_017947.4(MOCOS):c.2407C>G (p.Gln803Glu)

dbSNP: rs774534818
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686793 SCV000814328 uncertain significance Xanthinuria type II 2018-05-17 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. This sequence change replaces glutamine with glutamic acid at codon 803 of the MOCOS protein (p.Gln803Glu). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and glutamic acid. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with MOCOS-related disease. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain.
Fulgent Genetics, Fulgent Genetics RCV000686793 SCV002781488 uncertain significance Xanthinuria type II 2021-09-21 criteria provided, single submitter clinical testing

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