ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.437A>C (p.Tyr146Ser)

dbSNP: rs1564720359
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688242 SCV000815846 uncertain significance Fanconi anemia 2022-01-16 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with serine, which is neutral and polar, at codon 146 of the FANCC protein (p.Tyr146Ser). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 568009). This variant has not been reported in the literature in individuals affected with FANCC-related conditions. This variant is not present in population databases (gnomAD no frequency).
Ambry Genetics RCV002331340 SCV002633005 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-06 criteria provided, single submitter clinical testing The p.Y146S variant (also known as c.437A>C), located in coding exon 4 of the FANCC gene, results from an A to C substitution at nucleotide position 437. The tyrosine at codon 146 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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