ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter)

dbSNP: rs761725308
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813088 SCV000953426 pathogenic Fanconi anemia 2022-12-29 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: 656626). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 9399890, 12955722). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln772*) in the FANCA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192).
Baylor Genetics RCV001256264 SCV004196088 pathogenic Fanconi anemia complementation group A 2023-06-26 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001256264 SCV001425676 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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