ClinVar Miner

Submissions for variant NM_004407.4(DMP1):c.135+1G>T

gnomAD frequency: 0.00013  dbSNP: rs141480996
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001535957 SCV001752618 likely pathogenic Hypophosphatemic rickets, autosomal recessive, 1 2021-06-30 criteria provided, single submitter clinical testing
GeneDx RCV001751790 SCV001988038 uncertain significance not provided 2019-09-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001535957 SCV002017264 likely pathogenic Hypophosphatemic rickets, autosomal recessive, 1 2019-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001751790 SCV002236880 uncertain significance not provided 2022-08-04 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 4 of the DMP1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DMP1 are known to be pathogenic (PMID: 16294270, 17033621, 19007919). This variant is present in population databases (rs141480996, gnomAD 0.5%). This variant has not been reported in the literature in individuals affected with DMP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1179102). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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