ClinVar Miner

Submissions for variant NM_004530.6(MMP2):c.538G>A (p.Asp180Asn)

gnomAD frequency: 0.00001  dbSNP: rs786205497
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000171246 SCV000221443 likely pathogenic not provided criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000171246 SCV003441837 uncertain significance not provided 2022-08-19 criteria provided, single submitter clinical testing This missense change has been observed in individuals with multicentric osteolysis (PMID: 24637309, 29620724). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 180 of the MMP2 protein (p.Asp180Asn). ClinVar contains an entry for this variant (Variation ID: 191067). 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. This variant disrupts the p.Asp180 amino acid residue in MMP2. Other variant(s) that disrupt this residue have been observed in individuals with MMP2-related conditions (PMID: 22876575), which suggests that this may be a clinically significant amino acid residue. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0").

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