ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1063T>C (p.Ser355Pro)

dbSNP: rs141036911
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523042 SCV000621279 uncertain significance not provided 2023-03-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not located in the triple helical region, where the majority of pathogenic missense variants occur (HGMD; Acke et al., 2014); In silico analysis supports that this missense variant does not alter protein structure/function
Invitae RCV000523042 SCV002144973 likely benign not provided 2024-01-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000523042 SCV004565050 uncertain significance not provided 2023-03-13 criteria provided, single submitter clinical testing The COL11A1 c.1063T>C; p.Ser355Pro variant (rs141036911), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 452469). This variant is observed in the general population with an overall allele frequency of 0.006% (18/282378 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.205). Due to limited information, the clinical significance of this variant is uncertain at this time.

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