ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.1261C>T (p.Gln421Ter)

dbSNP: rs1554930314
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000664069 SCV000787507 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L 2018-04-16 criteria provided, single submitter curation This variant is interpreted as a Likely Pathogenic, for Limb-girdle muscular dystrophy 2L, Autosomal Recessive 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. PVS1-Strong => PVS1 downgraded in strength to Strong.

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