ClinVar Miner

Submissions for variant NM_004407.4(DMP1):c.55-1G>C

gnomAD frequency: 0.00002  dbSNP: rs587776697
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000009105 SCV000608346 pathogenic Hypophosphatemic rickets, autosomal recessive, 1 2015-04-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000009105 SCV002782108 likely pathogenic Hypophosphatemic rickets, autosomal recessive, 1 2022-04-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002512929 SCV003525519 pathogenic not provided 2023-02-08 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 2 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). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 8574). Disruption of this splice site has been observed in individual(s) with autosomal recessive hypophosphatemic rickets (PMID: 17033625). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs587776697, gnomAD 0.007%).
OMIM RCV000009105 SCV000029322 pathogenic Hypophosphatemic rickets, autosomal recessive, 1 2006-11-01 no assertion criteria provided literature only

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