ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.2591C>A (p.Ser864Tyr)

gnomAD frequency: 0.00005  dbSNP: rs373490721
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001589565 SCV001815154 uncertain significance not provided 2021-02-24 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 has a deleterious effect on protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001589565 SCV002162403 likely benign not provided 2024-09-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004980606 SCV005557934 uncertain significance Inborn genetic diseases 2024-11-26 criteria provided, single submitter clinical testing The c.2591C>A (p.S864Y) alteration is located in exon 35 (coding exon 35) of the COL11A2 gene. This alteration results from a C to A substitution at nucleotide position 2591, causing the serine (S) at amino acid position 864 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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