ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.761_763GAA[1] (p.Arg255del) (rs555210441)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824515 SCV000965415 uncertain significance Fanconi anemia 2020-01-06 criteria provided, single submitter clinical testing This variant, c.764_766delGAA, results in the deletion of 1 amino acid(s) of the FANCA protein (p.Arg255del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs555210441, ExAC 0.03%). This variant has been observed in an individual affected with Fanconi anemia, however, this variant was reported to not segregate with disease phenotype (PMID: 9371798). ClinVar contains an entry for this variant (Variation ID: 134292). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
ITMI RCV000120965 SCV000085133 not provided not specified 2013-09-19 no assertion provided reference population

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