ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1014G>A (p.Lys338=)

dbSNP: rs780776360
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485919 SCV000572233 uncertain significance not provided 2016-11-03 criteria provided, single submitter clinical testing This variant is denoted FANCC c.1014G>A at the DNA level. This variant is silent at the coding level, preserving a Lysine at codon 338. In silico splicing models are inconsistent; therefore, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as being pathogenic or benign. FANCC c.1014G>A was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.The nucleotide which is altered, a guanine (G) at base 1014, is conserved across species. Based on currently available information, it is unclear whether FANCC c.1014G>A is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV002329158 SCV002627512 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-15 criteria provided, single submitter clinical testing The c.1014G>A variant (also known as p.K338K), located in coding exon 10 of the FANCC gene, results from a G to A substitution at nucleotide position 1014. This nucleotide substitution does not change the lysine at codon 338. This variant was also observed in 1/3251 individuals who met eligibility criteria for hereditary breast and ovarian cancer syndrome (Lerner-Ellis J et al. J Cancer Res Clin Oncol, 2021 Mar;147:871-879). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may weaken the native splice acceptor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001834568 SCV003249828 likely benign Fanconi anemia 2022-12-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834568 SCV002081189 uncertain significance Fanconi anemia 2020-09-10 no assertion criteria provided clinical testing

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