ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1607C>G (p.Ser536Ter)

dbSNP: rs769047348
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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 RCV001944168 SCV002210488 pathogenic Fanconi anemia 2023-08-02 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1432943). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with ovarian cancer (PMID: 28975465). This sequence change creates a premature translational stop signal (p.Ser536*) 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). This variant is present in population databases (rs769047348, gnomAD 0.006%).
Baylor Genetics RCV003464258 SCV004196019 likely pathogenic Fanconi anemia complementation group A 2023-09-23 criteria provided, single submitter clinical testing

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