Submissions for variant NM_000135.4(FANCA):c.1912G>T (p.Gly638Ter)

dbSNP: rs2143367693

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002271829	SCV002555860	likely pathogenic	Fanconi anemia	2022-06-14	criteria provided, single submitter	clinical testing	Variant summary: FANCA c.1912G>T (p.Gly638X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 156080 control chromosomes (gnomAD). To our knowledge, no occurrence of c.1912G>T in individuals affected with Fanconi Anemia and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Myriad Genetics, Inc.	RCV002307853	SCV002603816	likely pathogenic	Fanconi anemia complementation group A	2022-03-31	criteria provided, single submitter	clinical testing	NM_000135.2(FANCA):c.1912G>T(G638*) 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.