ClinVar Miner

Submissions for variant NM_004407.4(DMP1):c.424G>T (p.Asp142Tyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002979728 SCV003297033 uncertain significance not provided 2022-07-31 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 142 of the DMP1 protein (p.Asp142Tyr). This variant is present in population databases (rs201761802, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with DMP1-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 C0"). 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.
3billion RCV004720374 SCV005328794 likely benign Hypophosphatemic rickets, autosomal recessive, 1 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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