ClinVar Miner

Submissions for variant NM_006888.6(CALM1):c.161A>T (p.Asn54Ile)

dbSNP: rs267607276
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000032976 SCV001426215 likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 4 2020-07-22 criteria provided, single submitter curation This variant is interpreted as likely pathogenic for Ventricular tachycardia, catecholaminergic polymorphic, 4, autosomal dominant. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3); Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PP1 upgraded to moderate); Well-established functional studies show a deleterious effect (PS3 downgraded to moderate).
OMIM RCV000032976 SCV000056751 pathogenic Catecholaminergic polymorphic ventricular tachycardia 4 2012-10-05 no assertion criteria provided literature only
GeneReviews RCV000032976 SCV000147939 not provided Catecholaminergic polymorphic ventricular tachycardia 4 no assertion provided literature only
Nyegaard lab; Aarhus University RCV000032976 SCV000187713 pathogenic Catecholaminergic polymorphic ventricular tachycardia 4 2012-07-23 no assertion criteria provided research
Blueprint Genetics RCV000157133 SCV000206856 likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1 2014-05-05 no assertion criteria provided clinical testing

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