ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser) (rs370085403)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766439 SCV000573677 uncertain significance not provided 2018-08-07 criteria provided, single submitter clinical testing The L856S variant in the FANCA gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The L856S variant is observed in 11/16488 alleles (0.067%) alleles from individuals of South Asian background in the ExAC dataset (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The L856S variant is a non-conservative amino acid substitution, which occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret L856S as a variant of uncertain significance.
Counsyl RCV000668295 SCV000792869 uncertain significance Fanconi anemia, complementation group A 2017-07-19 criteria provided, single submitter clinical testing
ITMI RCV000120931 SCV000085099 not provided not specified 2013-09-19 no assertion provided reference population

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