ClinVar Miner

Submissions for variant NM_006416.5(SLC35A1):c.757G>C (p.Ala253Pro)

dbSNP: rs1484245900
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560635 SCV000646104 uncertain significance SLC35A1-congenital disorder of glycosylation 2022-08-09 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 468943). This missense change has been observed in individual(s) with clinical features of SLC35A1-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 253 of the SLC35A1 protein (p.Ala253Pro). 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.

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