ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3836T>C (p.Ile1279Thr)

gnomAD frequency: 0.00001  dbSNP: rs752658223
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179082 SCV000231275 uncertain significance not provided 2015-04-06 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680512 SCV000807897 uncertain significance Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV002228793 SCV001566379 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-11-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227085 SCV002506184 uncertain significance Ehlers-Danlos syndrome, classic type, 2 2022-01-12 criteria provided, single submitter clinical testing The COL5A2 c.3836T>C; p.Ile1279Thr variant (rs752658223), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 197920). This variant is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. The isoleucine at codon 1279 is moderately conserved, and computational analyses predict that this variant is deleterious (REVEL: 0.749). However, given the lack of clinical and functional data, the significance of the p.Ile1279Thr variant is uncertain at this time.

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