ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.907G>A (p.Val303Ile)

gnomAD frequency: 0.00012  dbSNP: rs369925361
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001321104 SCV001511920 benign not provided 2024-01-02 criteria provided, single submitter clinical testing
GeneDx RCV001321104 SCV001791739 uncertain significance not provided 2024-11-20 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (PMID: 25240749); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25240749)
Ambry Genetics RCV003166859 SCV003879344 uncertain significance Inborn genetic diseases 2023-03-01 criteria provided, single submitter clinical testing The c.907G>A (p.V303I) alteration is located in exon 7 (coding exon 7) of the COL11A1 gene. This alteration results from a G to A substitution at nucleotide position 907, causing the valine (V) at amino acid position 303 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003490188 SCV004241262 uncertain significance not specified 2023-12-18 criteria provided, single submitter clinical testing Variant summary: COL11A1 c.907G>A (p.Val303Ile) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 7.2e-05 in 251118 control chromosomes. To our knowledge, no occurrence of c.907G>A in individuals affected with Stickler Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Three submitters have cited clinical-significance assessments for this variant to ClinVar after 2014, classifying the variant as uncertain significance (n=2) or likely benign(n=1). Based on the evidence outlined above, the variant was classified as uncertain significance.

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