Total submissions: 3
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 | |
Gene |
RCV000000899 | SCV000041571 | not provided | Congenital defect of folate absorption | no assertion provided | literature only |