ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2546del (p.Ser849fs) (rs1060501876)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470001 SCV000547737 pathogenic Fanconi anemia 2019-01-15 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 27 of the FANCA mRNA (c.2546del), causing a frameshift at codon 849. This creates a premature translational stop signal (p.Ser849Phefs*40) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCA are known to be pathogenic. This particular variant has been reported in multiple individuals affected with Fanconi anemia (PMID: 10090479, 25703136, 16445838, 12444097, 26841305). It has also been reported as a founder mutation in the Korean population (PMID: 23067021) and a prevalent mutation in the Japanese population (PMID: 15523645). For these reasons, this variant has been classified as Pathogenic.

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