ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.1513C>T (p.Pro505Ser)

dbSNP: rs865903887
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001945651 SCV002189104 likely benign not provided 2022-12-02 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV003339826 SCV004048363 uncertain significance Stickler syndrome type 1 criteria provided, single submitter clinical testing The missense variant c.1513C>T (p.Pro505Ser) in COL2A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency (0.002%) in the gnomad and novel in 1000 genome database. The amino acid Proline at position 505 is changed to a Serine changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by PolyPhen2. The residue is conserved across species. For these reasons, this variant has been classified as Uncertain Significance.
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences RCV003444066 SCV004171081 likely pathogenic Spondyloepiphyseal dysplasia congenita 2023-11-27 criteria provided, single submitter research

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