ClinVar Miner

Submissions for variant NM_001853.4(COL9A3):c.245C>T (p.Pro82Leu)

gnomAD frequency: 0.00011  dbSNP: rs199653123
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000991656 SCV001143302 benign not provided 2022-07-21 criteria provided, single submitter clinical testing
GeneDx RCV000991656 SCV001813707 uncertain significance not provided 2024-01-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Labcorp Genetics (formerly Invitae), Labcorp RCV000991656 SCV002365831 likely benign not provided 2024-01-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279684 SCV002566436 uncertain significance Connective tissue disorder 2019-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030127 SCV004929801 uncertain significance Inborn genetic diseases 2024-01-25 criteria provided, single submitter clinical testing The c.245C>T (p.P82L) alteration is located in exon 4 (coding exon 4) of the COL9A3 gene. This alteration results from a C to T substitution at nucleotide position 245, causing the proline (P) at amino acid position 82 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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