ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.5610C>A (p.Ser1870Arg) (rs113153193)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000080952 SCV000280632 uncertain significance not provided 2015-05-29 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000259065 SCV000112859 benign not specified 2016-09-14 criteria provided, single submitter clinical testing
GeneDx RCV000080952 SCV000620832 uncertain significance not provided 2018-08-24 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the he COL6A3 gene. The S1870R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The S1870R variant is observed in 74/16500 (0.5%) alleles from individuals of Ashkenazi Jewish background in large population cohorts (Lek et al., 2016). The S1870R variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, itis unclear whether this variant is a pathogenic variant or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV000359943 SCV000428784 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing

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