ClinVar Miner

Submissions for variant NM_004407.4(DMP1):c.55-3T>G

gnomAD frequency: 0.00019  dbSNP: rs181490843
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000289378 SCV000342257 uncertain significance not provided 2018-01-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001156717 SCV001318240 uncertain significance Hypophosphatemic rickets, autosomal recessive, 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000289378 SCV001511250 uncertain significance not provided 2022-08-19 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the DMP1 gene. It does not directly change the encoded amino acid sequence of the DMP1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs181490843, gnomAD 0.06%). 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: 288212). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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.
Breakthrough Genomics, Breakthrough Genomics RCV000289378 SCV005190172 uncertain significance not provided criteria provided, single submitter not provided
Fulgent Genetics, Fulgent Genetics RCV001156717 SCV005669892 uncertain significance Hypophosphatemic rickets, autosomal recessive, 1 2024-02-13 criteria provided, single submitter clinical testing

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