ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1522A>G (p.Thr508Ala)

gnomAD frequency: 0.00014  dbSNP: rs55851925
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597644 SCV000709234 uncertain significance not provided 2017-06-15 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659310 SCV000781121 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000597644 SCV001778962 uncertain significance not provided 2023-07-04 criteria provided, single submitter clinical testing Identified in a patient with a clinical diagnosis of blindness in published literature (Dineiro et al., 2020); 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; This variant is associated with the following publications: (PMID: 32483926)
Invitae RCV000597644 SCV002109240 benign not provided 2024-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532666 SCV003695159 uncertain significance Inborn genetic diseases 2021-10-26 criteria provided, single submitter clinical testing The c.1522A>G (p.T508A) alteration is located in exon 13 (coding exon 13) of the COL11A1 gene. This alteration results from a A to G substitution at nucleotide position 1522, causing the threonine (T) at amino acid position 508 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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