ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3401C>T (p.Pro1134Leu)

gnomAD frequency: 0.00001  dbSNP: rs764478054
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001797503 SCV002039075 uncertain significance not provided 2021-06-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV001797503 SCV002203050 likely benign not provided 2024-08-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003346696 SCV004060164 uncertain significance Inborn genetic diseases 2023-08-14 criteria provided, single submitter clinical testing The c.3401C>T (p.P1134L) alteration is located in exon 44 (coding exon 44) of the COL11A1 gene. This alteration results from a C to T substitution at nucleotide position 3401, causing the proline (P) at amino acid position 1134 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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