ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.50del (p.Gly17fs)

dbSNP: rs748624754
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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 RCV001879796 SCV002156318 pathogenic Fanconi anemia 2021-10-08 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: 974277). This sequence change creates a premature translational stop signal (p.Gly17Alafs*27) 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). While this variant is present in population databases (rs748624754), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 21273304).
Baylor Genetics RCV001256533 SCV004196095 pathogenic Fanconi anemia complementation group A 2023-06-18 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001256533 SCV001426009 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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