ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1814_1815del (p.Glu605fs)

dbSNP: rs759899153
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000529668 SCV000626153 pathogenic Fanconi anemia 2023-05-08 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: 456085). This premature translational stop signal has been observed in individual(s) with renal cancer (PMID: 29625052). This variant is present in population databases (rs759899153, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Glu605Valfs*7) 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).
Leiden Open Variation Database RCV001256369 SCV001425802 uncertain significance 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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