ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1593del (p.Ala533fs)

dbSNP: rs761519737
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001863078 SCV002206753 pathogenic Fanconi anemia 2023-09-22 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: 929701). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 12552564). This variant is present in population databases (rs761519737, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Ala533Profs*26) in the FANCG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCG are known to be pathogenic (PMID: 12552564).
Baylor Genetics RCV001194968 SCV004199119 pathogenic Fanconi anemia complementation group G 2023-10-09 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001194968 SCV001364842 pathogenic Fanconi anemia complementation group G 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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