ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.3974C>T (p.Ser1325Leu)

gnomAD frequency: 0.00004  dbSNP: rs543145528
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680465 SCV000807840 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757096 SCV000885209 likely benign not provided 2017-09-05 criteria provided, single submitter clinical testing The p.Ser1325Leu variant (rs543145528) has not been reported in the medical literature, nor is it found in ClinVar. The p.Ser1325Leu variant is listed in the Genome Aggregation Database (gnomAD) browser with an allele frequency of 0.44% in the South Asian population (identified in 134 out of 30,530 chromosomes; 2 homozygotes). Additionally, the serine at codon 1325 is weakly conserved considering 11 species (Alamut software v2.9.0), and computational analyses suggest that this variant does not affect the COL11A2 protein structure/function (SIFT: tolerated, PolyPhen2: benign, MutationTaster: polymorphism). Therefore, based on the available evidence, the p.Ser1325Leu variant appears to be an ethnic-specific polymorphism present in the South Asian population and is classified as likely benign.
GeneDx RCV000757096 SCV001824558 likely benign not provided 2021-02-22 criteria provided, single submitter clinical testing
Invitae RCV000757096 SCV002405711 benign not provided 2024-01-16 criteria provided, single submitter clinical testing

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