ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3827G>A (p.Arg1276His)

dbSNP: rs142168567
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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 RCV001230190 SCV001402663 benign not provided 2023-10-22 criteria provided, single submitter clinical testing
GeneDx RCV001230190 SCV001789703 uncertain significance not provided 2023-07-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (HGMD)
PreventionGenetics, part of Exact Sciences RCV004538482 SCV004116688 uncertain significance COL2A1-related disorder 2023-08-21 criteria provided, single submitter clinical testing The COL2A1 c.3827G>A variant is predicted to result in the amino acid substitution p.Arg1276His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.044% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-48369159-C-T). A different variant affecting the same amino acid (p.Arg1276Cys) was reported in one individual with spondyloarthropathy with normal stature (Reported as p.Arg1076Cys, Hoornaert. 2006. PubMed ID: 16155195). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001230190 SCV004563651 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing The COL2A1 c c.3827G>A; p.Arg1276His variant (rs142168567), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 957243). This variant is found in the African/African-American population with an allele frequency of 0.0441% (11/24,952 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.491). Due to limited information, the clinical significance of this variant is uncertain at this time.

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