ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1157C>G (p.Pro386Arg)

dbSNP: rs141147618
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000630846 SCV000751815 uncertain significance Fanconi anemia 2022-10-04 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 386 of the FANCG protein (p.Pro386Arg). This variant is present in population databases (rs141147618, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with FANCG-related conditions. ClinVar contains an entry for this variant (Variation ID: 134360). 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 FANCG protein function. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001507747 SCV001713488 uncertain significance not provided 2021-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001271366 SCV002780335 uncertain significance Fanconi anemia complementation group G 2021-11-18 criteria provided, single submitter clinical testing
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153395 SCV003843504 benign Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
ITMI RCV000121034 SCV000085202 not provided not specified 2013-09-19 no assertion provided reference population
Natera, Inc. RCV001271366 SCV001452477 likely benign Fanconi anemia complementation group G 2019-10-28 no assertion criteria provided clinical testing

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