ClinVar Miner

Submissions for variant NM_080669.6(SLC46A1):c.1334del (p.Lys445fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002470144 SCV002766492 uncertain significance not specified 2022-11-11 criteria provided, single submitter clinical testing Variant summary: SLC46A1 c.1334delA (p.Lys445ArgfsX52) causes a frameshift which results in an extension of the protein. Extensions of this protein have not been classified pathogenic in ClinVar. The variant was absent in 248472 control chromosomes (gnomAD). To our knowledge, no occurrence of c.1334delA in individuals affected with Congenital Defect Of Folate Absorption and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Revvity Omics, Revvity RCV003138282 SCV003821381 uncertain significance Congenital defect of folate absorption 2021-11-11 criteria provided, single submitter clinical testing

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