ClinVar Miner

Submissions for variant NM_001853.4(COL9A3):c.1735C>A (p.Pro579Thr)

gnomAD frequency: 0.00013  dbSNP: rs758064613
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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 RCV002207847 SCV002373684 likely benign not provided 2025-01-28 criteria provided, single submitter clinical testing
GeneDx RCV002207847 SCV002513110 uncertain significance not provided 2023-06-27 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 does not alter protein structure/function
Ambry Genetics RCV003250453 SCV003963659 uncertain significance Inborn genetic diseases 2023-04-04 criteria provided, single submitter clinical testing The c.1735C>A (p.P579T) alteration is located in exon 30 (coding exon 30) of the COL9A3 gene. This alteration results from a C to A substitution at nucleotide position 1735, causing the proline (P) at amino acid position 579 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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