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
Labcorp Genetics (formerly Invitae), Labcorp RCV003555883 SCV004298191 pathogenic not provided 2023-09-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 851). This premature translational stop signal has been observed in individual(s) with hereditary folate malabsorption (PMID: 17446347). 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 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).
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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