ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys)

gnomAD frequency: 0.00002  dbSNP: rs587778312
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667865 SCV000792376 uncertain significance Fanconi anemia complementation group A 2017-06-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001243928 SCV001417118 likely benign Fanconi anemia 2023-12-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004975281 SCV005583383 uncertain significance Inborn genetic diseases 2024-12-06 criteria provided, single submitter clinical testing The p.R670C variant (also known as c.2008C>T), located in coding exon 22 of the FANCA gene, results from a C to T substitution at nucleotide position 2008. The arginine at codon 670 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000667865 SCV005646583 uncertain significance Fanconi anemia complementation group A 2024-01-10 criteria provided, single submitter clinical testing
ITMI RCV000120922 SCV000085090 not provided not specified 2013-09-19 no assertion provided reference population
Natera, Inc. RCV001243928 SCV002092648 uncertain significance Fanconi anemia 2020-04-28 no assertion criteria provided clinical testing

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