ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.4337del (p.Gly1446fs)

dbSNP: rs1565664375
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003338384 SCV004048075 uncertain significance Stickler syndrome, type I, nonsyndromic ocular criteria provided, single submitter clinical testing The frameshift deletion p.G1446Afs*25 in COL2A1 (NM_001844.5) has been reported to ClinVar as Pathogenic. The p.G1446Afs*25 variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The frame shifted sequence continues 25 residues until a stop codon is reached. The p.G1446Afs*25 variant is a loss of function variant in the gene COL2A1, which is intolerant of Loss of Function variants. Since, the variant is present in last exon, functional studies will be required to prove protein truncation. For these reasons, this variant has been classified as Uncertain Significance.
OMIM RCV000018933 SCV000039219 pathogenic Spondyloperipheral dysplasia 2004-08-30 no assertion criteria provided literature only

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