ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1252_1253delinsGA (p.Pro418Asp) (rs1064795135)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478732 SCV000570639 uncertain significance not specified 2016-06-10 criteria provided, single submitter clinical testing This combined deletion and insertion is denoted FANCC This variant is denoted FANCC c.1252_1253delCCinsGACC>GA at the cDNA level and p.Pro418Asp (P418D) at the protein level. The normal sequence, with the bases that are deleted in braces and inserted in brackets, is CGAA[CC][GA]CCCCA. This combined deletion and insertion results in the change of a Proline to an Aspartic Acid (CCC>GAC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. FANCC c.1252_1253delCCinsGACC>GA 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 Proline and Aspartic Acid differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. FANCC c.1252_1253delCCinsGACC>GA occurs at a position that is not conserved 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 c.1252_1253delCCinsGACC>GA is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV001010546 SCV001170766 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-06 criteria provided, single submitter clinical testing Insufficient evidence

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