ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1063G>C (p.Asp355His)

gnomAD frequency: 0.00001  dbSNP: rs587778325
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766565 SCV000567785 uncertain significance not provided 2024-10-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: Gordon2000[Book], 24728327)
Ambry Genetics RCV001009799 SCV001169912 likely benign Hereditary cancer-predisposing syndrome 2018-02-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV001300842 SCV001489992 uncertain significance Fanconi anemia 2023-05-21 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FANCC protein function. ClinVar contains an entry for this variant (Variation ID: 134295). This variant has not been reported in the literature in individuals affected with FANCC-related conditions. This variant is present in population databases (rs587778325, gnomAD 0.004%). This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 355 of the FANCC protein (p.Asp355His).
ITMI RCV000120968 SCV000085136 not provided not specified 2013-09-19 no assertion provided reference population

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