ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.3446A>G (p.Asn1149Ser)

gnomAD frequency: 0.00001  dbSNP: rs754703121
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001772640 SCV001993225 uncertain significance not provided 2023-02-15 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); 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 RCV001772640 SCV002202019 benign not provided 2024-08-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163844 SCV003877489 uncertain significance Inborn genetic diseases 2023-02-16 criteria provided, single submitter clinical testing The c.3446A>G (p.N1149S) alteration is located in exon 46 (coding exon 46) of the COL11A2 gene. This alteration results from a A to G substitution at nucleotide position 3446, causing the asparagine (N) at amino acid position 1149 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004749730 SCV005357136 uncertain significance COL11A2-related disorder 2024-05-10 no assertion criteria provided clinical testing The COL11A2 c.3446A>G variant is predicted to result in the amino acid substitution p.Asn1149Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0042% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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