ClinVar Miner

Submissions for variant NM_080669.6(SLC46A1):c.1173_1174del (p.Ser393fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004596675 SCV005088756 likely pathogenic Congenital defect of folate absorption 2021-12-08 criteria provided, single submitter clinical testing This variant seems to be a novel variant, as it has not been previously reported in population databases or in the literature. However, several other truncating variants in this gene have been previously reported as pathogenic in the ClinVar database context of congenital defect of folate absorption.

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