ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.17T>G (p.Val6Gly)

dbSNP: rs527289778
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485074 SCV000570541 uncertain significance not provided 2016-06-02 criteria provided, single submitter clinical testing This variant is denoted FANCC c.17T>G at the cDNA level, p.Val6Gly (V6G) at the protein level, and results in the change of a Valine to a Glycine (GTA>GGA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. FANCC Val6Gly was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Valine and Glycine share similar properties, this is considered a conservative amino acid substitution. FANCC Val6Gly occurs at a position that is not conserved and is not located in a known functional domain (Gordon 2000). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available evidence, it is unclear whether FANCC Val6Gly is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Natera, Inc. RCV001834563 SCV002081322 uncertain significance Fanconi anemia 2021-04-19 no assertion criteria provided clinical testing

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