ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.5132C>T (p.Thr1711Ile)

gnomAD frequency: 0.00018  dbSNP: rs139920081
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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 RCV001298100 SCV001487144 likely benign not provided 2024-06-04 criteria provided, single submitter clinical testing
GeneDx RCV001298100 SCV001812101 uncertain significance not provided 2025-03-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (HGMD; PMID: 25240749); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25240749)
Ambry Genetics RCV004978257 SCV005557911 uncertain significance Inborn genetic diseases 2024-10-07 criteria provided, single submitter clinical testing The c.5132C>T (p.T1711I) alteration is located in exon 66 (coding exon 66) of the COL11A1 gene. This alteration results from a C to T substitution at nucleotide position 5132, causing the threonine (T) at amino acid position 1711 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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