ClinVar Miner

Submissions for variant NM_002226.5(JAG2):c.728C>A (p.Ala243Asp)

dbSNP: rs867073471
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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 RCV001731212 SCV002500958 uncertain significance Muscular dystrophy, limb-girdle, autosomal recessive 27 2022-04-20 criteria provided, single submitter curation This variant is interpreted as a variant of uncertain significance for Muscular dystrophy, limb-girdle, autosomal recessive 27. 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); Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PP1).
OMIM RCV001731212 SCV001981621 pathogenic Muscular dystrophy, limb-girdle, autosomal recessive 27 2021-10-19 no assertion criteria provided literature only

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