ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.1553C>G (p.Pro518Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004698929 SCV005200657 uncertain significance Stickler syndrome, type I, nonsyndromic ocular 2024-07-22 criteria provided, single submitter clinical testing ACMG Criteria: PP3_MOD,PM2_SUP,PP2
Ambry Genetics RCV004981168 SCV005568875 uncertain significance Inborn genetic diseases 2024-10-06 criteria provided, single submitter clinical testing The c.1553C>G (p.P518R) alteration is located in exon 24 (coding exon 24) of the COL2A1 gene. This alteration results from a C to G substitution at nucleotide position 1553, causing the proline (P) at amino acid position 518 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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