ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3967C>A (p.Pro1323Thr)

gnomAD frequency: 0.00008  dbSNP: rs377044024
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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 RCV002104761 SCV002389228 likely benign not provided 2024-09-30 criteria provided, single submitter clinical testing
GeneDx RCV002104761 SCV003195137 uncertain significance not provided 2025-01-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004612135 SCV005108804 uncertain significance Inborn genetic diseases 2024-03-19 criteria provided, single submitter clinical testing The c.3967C>A (p.P1323T) alteration is located in exon 52 (coding exon 52) of the COL11A1 gene. This alteration results from a C to A substitution at nucleotide position 3967, causing the proline (P) at amino acid position 1323 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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