ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.146A>G (p.Asn49Ser)

gnomAD frequency: 0.00018  dbSNP: rs145159429
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000518863 SCV000621254 uncertain significance not provided 2023-11-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (PMID: 25240749, HGMD)
Invitae RCV000518863 SCV002396571 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002525238 SCV003598280 uncertain significance Inborn genetic diseases 2021-08-17 criteria provided, single submitter clinical testing The c.146A>G (p.N49S) alteration is located in exon 2 (coding exon 2) of the COL11A1 gene. This alteration results from a A to G substitution at nucleotide position 146, causing the asparagine (N) at amino acid position 49 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 RCV004541635 SCV004765948 likely benign COL11A1-related disorder 2022-08-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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