ClinVar Miner

Submissions for variant NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup)

dbSNP: rs193922900
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090556 SCV001246167 pathogenic not provided 2017-09-01 criteria provided, single submitter clinical testing
Invitae RCV001090556 SCV001577180 likely pathogenic not provided 2022-09-24 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 9193). This variant has been observed in individuals with multiple epiphyseal dysplasia (PMID: 9887340, 21922596; Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This variant, c.1417_1419dup, results in the insertion of 1 amino acid(s) of the COMP protein (p.Asp473dup), but otherwise preserves the integrity of the reading frame.
Mendelics RCV000009771 SCV002519424 pathogenic Multiple epiphyseal dysplasia type 1 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000009771 SCV000029992 pathogenic Multiple epiphyseal dysplasia type 1 1999-01-01 no assertion criteria provided literature only
GeneReviews RCV000033881 SCV000057789 not provided Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome no assertion provided literature only
GeneReviews RCV002054431 SCV000086687 not provided Multiple epiphyseal dysplasia no assertion provided literature only

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