ClinVar Miner

Submissions for variant NM_001852.4(COL9A2):c.1485del (p.Gly496fs)

dbSNP: rs761748258
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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 RCV001304468 SCV001493748 pathogenic not provided 2023-10-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly496Alafs*35) in the COL9A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL9A2 are known to be pathogenic (PMID: 21671392, 33356723). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with COL9A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1007311). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001304468 SCV001738289 uncertain significance not provided 2020-03-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge Not observed in large population cohorts (Lek et al., 2016) Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease
Fulgent Genetics, Fulgent Genetics RCV002499569 SCV002816822 uncertain significance Epiphyseal dysplasia, multiple, 2; Stickler syndrome, type 5 2021-10-06 criteria provided, single submitter clinical testing

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