ClinVar Miner

Submissions for variant NM_013296.5(GPSM2):c.379C>T (p.Arg127Ter)

gnomAD frequency: 0.00006  dbSNP: rs267606854
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
King Laboratory, University of Washington RCV000001897 SCV001976382 pathogenic Chudley-McCullough syndrome 2020-08-01 criteria provided, single submitter research GPSM2 c.379C>T leads to a stop at codon 127. It is homozygous in 6 children with severe to profound pre-lingual hearing loss and ID in an extended Palestinian kindred (Abu Rayyan 2020). It is absent from 1300 Palestinian controls and is present in 4/282630 allele on gnomAD, all heterozygotes.
OMIM RCV000001897 SCV000022053 pathogenic Chudley-McCullough syndrome 2012-06-08 no assertion criteria provided literature only
Hereditary Research Laboratory, Bethlehem University RCV000454206 SCV000538094 pathogenic Hearing loss, autosomal recessive 2016-06-04 no assertion criteria provided research Severe to Profound

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