ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3478C>T (p.Gln1160Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002309318 SCV002603129 likely pathogenic Fanconi anemia complementation group A 2022-03-30 criteria provided, single submitter clinical testing NM_000135.2(FANCA):c.3478C>T(Q1160*) is expected to be pathogenic in the context of Fanconi anemia complementation group A. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in FANCA, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.
Baylor Genetics RCV002309318 SCV004196579 likely pathogenic Fanconi anemia complementation group A 2023-03-09 criteria provided, single submitter clinical testing

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