ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.4327G>A (p.Gly1443Ser) (rs78690642)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000597223 SCV000705686 benign not specified 2017-02-22 criteria provided, single submitter clinical testing
GeneDx RCV000597223 SCV000729629 benign not specified 2017-03-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000962455 SCV001109538 benign not provided 2020-11-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286562 SCV001473156 uncertain significance none provided 2020-01-05 criteria provided, single submitter clinical testing The COL2A1 c.4327G>A; p.Gly1443Ser variant (rs78690642) is reported in the literature but without a clear disease association (Barat-Houari 2016, Modi 2017). This variant is reported in ClinVar (Variation ID: 499946), and is found in the African population with an allele frequency of 1.5% (364/24958 alleles, including 7 homozygotes) in the Genome Aggregation Database. The glycine at codon 1443 is highly conserved, and computational analyses (SIFT: tolerated, PolyPhen-2: possibly damaging) predict conflicting effects of this variant on protein structure/function. Based on available information and the high population frequency, this variant is considered to be benign. References: Barat-Houari M et al. Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies. Hum Mutat. 2016;37(1):7-15. Modi BP et al. Rare mutations and potentially damaging missense variants in genes encoding fibrillar collagens and proteins involved in their production are candidates for risk for preterm premature rupture of membranes. PLoS One. 2017;12(3):e0174356.

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