ClinVar Miner

Submissions for variant NM_000095.3(COMP):c.1309G>A (p.Asp437Asn)

dbSNP: rs2055165476
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001250923 SCV001167673 likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 2020-02-03 criteria provided, single submitter clinical testing The variant is considered to be likely pathogenic as it qualifies following criteria of ACMG: PM1, PM2, PP2,PP3 and PP4
Labcorp Genetics (formerly Invitae), Labcorp RCV001860606 SCV002312603 uncertain significance not provided 2021-08-02 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 818216). This sequence change replaces aspartic acid with asparagine at codon 437 of the COMP protein (p.Asp437Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with COMP-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15").
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV002226751 SCV002505725 likely pathogenic Multiple epiphyseal dysplasia type 1 2021-08-01 criteria provided, single submitter clinical testing

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