ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4661C>T (p.Thr1554Met)

gnomAD frequency: 0.00009  dbSNP: rs759287748
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498209 SCV000590609 uncertain significance not provided 2023-11-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000498209 SCV003515090 benign not provided 2024-01-05 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Goettingen RCV003222005 SCV003915943 uncertain significance Hearing loss, autosomal dominant 37 2023-04-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023347 SCV004926769 uncertain significance Inborn genetic diseases 2023-11-06 criteria provided, single submitter clinical testing The c.4661C>T (p.T1554M) alteration is located in exon 63 (coding exon 63) of the COL11A1 gene. This alteration results from a C to T substitution at nucleotide position 4661, causing the threonine (T) at amino acid position 1554 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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