ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.1010T>C (p.Ile337Thr)

gnomAD frequency: 0.00006  dbSNP: rs147747530
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001229279 SCV001401721 likely benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004032665 SCV004929766 uncertain significance Inborn genetic diseases 2024-01-12 criteria provided, single submitter clinical testing The c.1010T>C (p.I337T) alteration is located in exon 11 (coding exon 11) of the COL9A1 gene. This alteration results from a T to C substitution at nucleotide position 1010, causing the isoleucine (I) at amino acid position 337 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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