ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.4040C>T (p.Pro1347Leu)

dbSNP: rs142890313
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659343 SCV000781154 uncertain significance Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001569344 SCV001793405 uncertain significance not provided 2021-05-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Occurs in the triple helical domain at the Y 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 Y position is not a common mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001569344 SCV002470066 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing

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