ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser) (rs587778324)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000764091 SCV000895055 uncertain significance Fanconi anemia, complementation group A 2018-10-31 criteria provided, single submitter clinical testing
ITMI RCV000120964 SCV000085132 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000533496 SCV000626216 uncertain significance Fanconi anemia 2018-11-15 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with serine at codon 252 of the FANCA protein (p.Asp252Ser). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FANCA-related disease. ClinVar contains an entry for this variant (Variation ID: 134291). Prediction algorithms are not available for this variant, and the functional significance of this missense change 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.

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