ClinVar Miner

Submissions for variant NM_005932.4(MIPEP):c.1745T>G (p.Leu582Arg)

dbSNP: rs1057518739
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000610224 SCV000223996 uncertain significance Cardiomyopathy; Left ventricular noncompaction; Infantile muscular hypotonia 2015-06-17 criteria provided, single submitter clinical testing Possible pathogenicity based on finding it once in our laboratory in trans with another variant (c.212T>A; p.Leu71Gln) in a 10-month-old male with left ventricular noncompaction, global delays, hypotonia, hypertonia/spasticity, abnormal movements, dysmorphic features, short stature, microcephaly, failure to thrive
OMIM RCV000412562 SCV000490249 pathogenic Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 2016-12-01 no assertion criteria provided literature only
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000412562 SCV000494187 pathogenic Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome no assertion criteria provided research This variant was detected as compound heterozygous in an individual with left ventricular noncompaction, developmental delay, hypotonia, and death during infancy.

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