ClinVar Miner

Submissions for variant NM_080669.6(SLC46A1):c.1274C>G (p.Pro425Arg)

dbSNP: rs80338774
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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 RCV000059712 SCV002182652 likely pathogenic not provided 2022-07-21 criteria provided, single submitter clinical testing This missense change has been observed in individuals with clinical features of hereditary folate malabsorption (PMID: 17446347; Invitae). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects SLC46A1 function (PMID: 17446347, 22345511). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 21743). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 425 of the SLC46A1 protein (p.Pro425Arg).
GeneReviews RCV000020948 SCV000041570 not provided Congenital defect of folate absorption no assertion provided literature only
UniProtKB/Swiss-Prot RCV000059712 SCV000091282 not provided not provided no assertion provided not provided

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