ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3868G>T (p.Ala1290Ser)

gnomAD frequency: 0.00003  dbSNP: rs370988085
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000445185 SCV000536251 uncertain significance not provided 2024-10-28 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Reported in a cohort of patients with adolescent idiopathic scoliosis (AIS) in published literature (PMID: 26566670); This variant is associated with the following publications: (PMID: 26566670)
Labcorp Genetics (formerly Invitae), Labcorp RCV000445185 SCV002192212 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243131 SCV003939140 uncertain significance Inborn genetic diseases 2023-05-30 criteria provided, single submitter clinical testing The c.3868G>T (p.A1290S) alteration is located in exon 51 (coding exon 51) of the COL11A1 gene. This alteration results from a G to T substitution at nucleotide position 3868, causing the alanine (A) at amino acid position 1290 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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