ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.110A>C (p.His37Pro)

dbSNP: rs1564794663
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000707475 SCV000836574 uncertain significance Fanconi anemia 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces histidine with proline at codon 37 of the FANCC protein (p.His37Pro). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FANCC-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Ambry Genetics RCV002440556 SCV002744775 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-25 criteria provided, single submitter clinical testing The p.H37P variant (also known as c.110A>C), located in coding exon 1 of the FANCC gene, results from an A to C substitution at nucleotide position 110. The histidine at codon 37 is replaced by proline, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV002466574 SCV002762237 uncertain significance not provided 2022-06-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 28492532)
Natera, Inc. RCV000707475 SCV002081310 uncertain significance Fanconi anemia 2021-03-29 no assertion criteria provided clinical testing

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