ClinVar Miner

Submissions for variant NM_019023.5(PRMT7):c.1074_1075del (p.Arg358fs)

dbSNP: rs763953657
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Edith Wolfson Medical Center RCV001199406 SCV001365393 likely pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome 2018-06-01 criteria provided, single submitter clinical testing We performed whole exome sequencing on the patients DNA sample. The analysis revealed a novel homozygous variant in PRMT7: c.1074_1075delAG: p.Arg358fs. This is a truncating variant which is also absent from databases (gnomAD, EXAC). The variant was validated by sanger sequencing in the patient in our clinical lab. Familial segregation showed that both parents were heterozygous carriers and their older healthy 6 year old son didn't carry this variant at all, further investigation in the DNA sample from the fetus found that the fetus was homozygous for this variant as well.
OMIM RCV001199406 SCV001370543 pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome 2020-07-04 no assertion criteria provided literature only

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