ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.214G>A (p.Ala72Thr)

dbSNP: rs567465885
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668393 SCV000792985 uncertain significance Fanconi anemia complementation group C 2017-07-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014600 SCV001175327 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-04 criteria provided, single submitter clinical testing The p.A72T variant (also known as c.214G>A), located in coding exon 2 of the FANCC gene, results from a G to A substitution at nucleotide position 214. The alanine at codon 72 is replaced by threonine, an amino acid with similar properties. This variant was identified in a cohort of 681 ancestrally diverse, healthy subjects (Bodian DL et al. PLoS ONE, 2014 Apr;9:e94554). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
ITMI RCV000120975 SCV000085143 not provided not specified 2013-09-19 no assertion provided reference population
Natera, Inc. RCV001826790 SCV002081296 uncertain significance Fanconi anemia 2021-07-06 no assertion criteria provided clinical testing

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