ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.948G>C (p.Gln316His) (rs1554832851)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519645 SCV000618309 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing This variant is denoted FANCC c.948G>C at the cDNA level, p.Gln316His (Q316H) at the protein level, and results in the change of a Glutamine to a Histidine (CAG>CAC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. FANCC Gln316His was not observed in the Exome Aggregation Consortium (ExAC) database (Lek 2016). Since Glutamine and Histidine differ in some properties, this is considered a semi-conservative amino acid substitution. FANCC Gln316His occurs at a position that is conserved across species and is located within the Hsp70 binding region (Gordon 2000). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether FANCC Gln316His is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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