ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4193A>C (p.Gln1398Pro)

gnomAD frequency: 0.00006  dbSNP: rs775587076
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001408294 SCV001610291 likely benign not provided 2024-01-07 criteria provided, single submitter clinical testing
GeneDx RCV001408294 SCV001801237 uncertain significance not provided 2020-12-21 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
Ambry Genetics RCV002553436 SCV003543292 uncertain significance Inborn genetic diseases 2021-10-29 criteria provided, single submitter clinical testing The c.4193A>C (p.Q1398P) alteration is located in exon 56 (coding exon 56) of the COL11A1 gene. This alteration results from a A to C substitution at nucleotide position 4193, causing the glutamine (Q) at amino acid position 1398 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004531243 SCV004710435 uncertain significance COL11A1-related disorder 2024-02-26 criteria provided, single submitter clinical testing The COL11A1 c.4193A>C variant is predicted to result in the amino acid substitution p.Gln1398Pro. This variant was reported in an individual with cleft lip and cleft palate (Dąbrowska et al 2022. PubMed ID: 35778651). This variant is reported in 0.011% of alleles in individuals of European (Non-Finnish) 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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