ClinVar Miner

Submissions for variant NM_080669.6(SLC46A1):c.194del (p.Gly65fs)

dbSNP: rs80338769
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003555883 SCV004298191 pathogenic not provided 2023-09-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly65Alafs*25) in the SLC46A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC46A1 are known to be pathogenic (PMID: 17446347, 21333572). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with hereditary folate malabsorption (PMID: 17446347). ClinVar contains an entry for this variant (Variation ID: 851). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000000899 SCV000021049 pathogenic Congenital defect of folate absorption 2007-08-15 no assertion criteria provided literature only
GeneReviews RCV000000899 SCV000041571 not provided Congenital defect of folate absorption no assertion provided literature only

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