ClinVar Miner

Submissions for variant NM_001852.4(COL9A2):c.186G>C (p.Pro62=)

dbSNP: rs1085307973
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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 RCV001851921 SCV002247279 pathogenic not provided 2020-12-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with autosomal dominant multiple epiphyseal dysplasia (PMID: 12244547). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 62 of the COL9A2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the COL9A2 protein. It affects a nucleotide within the consensus splice site of the intron.
OMIM RCV000018684 SCV000038967 pathogenic Epiphyseal dysplasia, multiple, 2 2002-10-01 no assertion criteria provided literature only

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