ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) (rs1447363475)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527193 SCV000626227 likely pathogenic Fanconi anemia 2019-09-06 criteria provided, single submitter clinical testing This sequence change replaces leucine with arginine at codon 324 of the FANCA protein (p.Leu324Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed on the opposite chromosome (in trans) from a likely pathogenic variant in individuals affected with Fanconi anemia (PMID: 12697994, Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. Experimental studies have shown that this missense change disrupts FANCA function (PMID: 12697994). 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.
Counsyl RCV000673548 SCV000798761 uncertain significance Fanconi anemia, complementation group A 2018-03-23 criteria provided, single submitter clinical testing

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