Submissions for variant NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter)

dbSNP: rs1390620949

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001868923	SCV002220186	pathogenic	Fanconi anemia	2021-04-16	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Glu1196*) in the FANCA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Fanconi anemia (PMID: 29247345). ClinVar contains an entry for this variant (Variation ID: 592052). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics	RCV003465654	SCV004196628	likely pathogenic	Fanconi anemia complementation group A	2022-06-19	criteria provided, single submitter	clinical testing
Gharavi Laboratory, Columbia University	RCV000723238	SCV000854369	uncertain significance	not provided	2018-09-16	no assertion criteria provided	research