ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.739C>T (p.Leu247Phe) (rs1554835099)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522448 SCV000616714 uncertain significance not provided 2017-04-17 criteria provided, single submitter clinical testing This variant is denoted FANCC c.739C>T at the cDNA level, p.Leu247Phe (L247F) at the protein level, and results in the change of a Leucine to a Phenylalanine (CTT>TTT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. FANCC Leu247Phe was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Since Leucine and Phenylalanine share similar properties, this is considered a conservative amino acid substitution. FANCC Leu247Phe occurs at a position that is conserved across species and is located within the GRP94 and Hsp70 binding domains (Gordon 2000). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, it is unclear whether FANCC Leu247Phe is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV001026382 SCV001188750 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-19 criteria provided, single submitter clinical testing Insufficient evidence
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198452 SCV001369386 uncertain significance Epicanthus; Global developmental delay; Abnormal facial shape; Wide nasal bridge; Microcephaly; Pectoralis major hypoplasia 2019-10-30 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3. This variant was detected in heterozygous state.

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