ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4561G>A (p.Ala1521Thr)

gnomAD frequency: 0.00003  dbSNP: rs769920499
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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 RCV001955499 SCV002208068 benign not provided 2023-02-08 criteria provided, single submitter clinical testing
GeneDx RCV001955499 SCV003930499 uncertain significance not provided 2023-05-22 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 does not alter protein structure/function
PreventionGenetics, part of Exact Sciences RCV004738459 SCV005345239 uncertain significance COL11A1-related disorder 2024-09-25 no assertion criteria provided clinical testing The COL11A1 c.4561G>A variant is predicted to result in the amino acid substitution p.Ala1521Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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