ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.4344C>G (p.Ile1448Met)

dbSNP: rs554269032
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001570647 SCV001794977 uncertain significance not provided 2022-10-12 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Occurs in the triple helical domain at the X position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the X position is not a common mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001570647 SCV002372569 likely benign not provided 2024-12-11 criteria provided, single submitter clinical testing

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