ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1540C>T (p.His514Tyr)

gnomAD frequency: 0.00001  dbSNP: rs749319183
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001012108 SCV001172523 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-09 criteria provided, single submitter clinical testing The p.H514Y variant (also known as c.1540C>T), located in coding exon 14 of the FANCC gene, results from a C to T substitution at nucleotide position 1540. The histidine at codon 514 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is poorly 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.
Natera, Inc. RCV001832334 SCV002081136 uncertain significance Fanconi anemia 2019-02-14 no assertion criteria provided clinical testing

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