ClinVar Miner

Submissions for variant NM_000095.3(COMP):c.1114GAC[2] (p.Asp374del)

dbSNP: rs1198060288
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001901762 SCV002176254 pathogenic not provided 2021-11-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with multiple epiphyseal dysplasia and/or pseudoachondroplasia (PMID: 7670472, 21965141, 24595329). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This variant, c.1120_1122del, results in the deletion of 1 amino acid(s) of the COMP protein (p.Asp374del), but otherwise preserves the integrity of the reading frame.
MGZ Medical Genetics Center RCV002290796 SCV002579663 likely pathogenic Multiple epiphyseal dysplasia type 1 2021-11-22 criteria provided, single submitter clinical testing
OMIM RCV002259406 SCV000050599 pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 2002-05-01 no assertion criteria provided literature only

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