ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.135T>A (p.Asp45Glu)

dbSNP: rs375778172
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001887982 SCV002117759 likely benign not provided 2024-10-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526151 SCV005040047 uncertain significance not specified 2024-03-07 criteria provided, single submitter clinical testing Variant summary: COL2A1 c.135T>A (p.Asp45Glu) results in a conservative amino acid change located in the VWFC domain (IPR001007) of 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 8e-06 in 249098 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.135T>A in individuals affected with Achondrogenesis, Type II and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1355187). Based on the evidence outlined above, the variant was classified as uncertain significance.

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