ClinVar Miner

Submissions for variant NM_001853.4(COL9A3):c.1538C>T (p.Pro513Leu)

gnomAD frequency: 0.00004  dbSNP: rs202094480
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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) RCV000597865 SCV000707510 uncertain significance not provided 2017-04-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001174894 SCV001338317 uncertain significance not specified 2020-02-19 criteria provided, single submitter clinical testing Variant summary: COL9A3 c.1538C>T (p.Pro513Leu) results in a non-conservative amino acid change located in the Collagen triple helix repeat (IPR008160) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 6e-05 in 249484 control chromosomes (gnomAD). To our knowledge, no occurrence of c.1538C>T in individuals affected with Multiple epiphyseal dysplasia 3 and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Athena Diagnostics Inc RCV000597865 SCV001475624 uncertain significance not provided 2020-03-31 criteria provided, single submitter clinical testing
Invitae RCV000597865 SCV001701809 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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