ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.818A>G (p.Tyr273Cys)

gnomAD frequency: 0.00002  dbSNP: rs763484552
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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 RCV001979339 SCV002256727 benign not provided 2023-11-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004044554 SCV004926777 uncertain significance Inborn genetic diseases 2023-09-25 criteria provided, single submitter clinical testing The c.818A>G (p.Y273C) alteration is located in exon 6 (coding exon 6) of the COL11A1 gene. This alteration results from a A to G substitution at nucleotide position 818, causing the tyrosine (Y) at amino acid position 273 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV001979339 SCV005379199 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; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25240749)

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