ClinVar Miner

Submissions for variant NM_017649.5(CNNM2):c.806C>G (p.Ser269Trp)

dbSNP: rs794726858
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000172915 SCV000787459 likely pathogenic Hypomagnesemia, seizures, and intellectual disability 1 2018-04-16 criteria provided, single submitter curation This variant is interpreted as a Likely Pathogenic, for Hypomagnesemia, seizures, and mental retardation, Autosomal Dominant inheritance. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM6 => Assumed de novo, but without confirmation of paternity and maternity (PMID:24699222). PS3-Moderate => PS3 downgraded in strength to Moderate (PMID:24699222).
OMIM RCV000172915 SCV000223899 pathogenic Hypomagnesemia, seizures, and intellectual disability 1 2014-04-01 no assertion criteria provided literature only

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