ClinVar Miner

Submissions for variant NM_020719.3(PRR12):c.5187del (p.Glu1730fs)

dbSNP: rs1568430264
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System RCV000678311 SCV000804370 uncertain significance not provided 2017-10-23 criteria provided, single submitter provider interpretation This variant was identified in a 3 year old female with develomental delays. She is non-dysmorphic and has a strong maternal family history of psychiatric disorders, seizures, and intellectual disability. Paternal history is unknown. Parental samples were not available for testing. This is a gene of uncertain significance; no known human disorders have been clearly associated with this gene. The variant is absent from the gnomAD database and the PRR12 gene is contstrained for loss of function variants.
GeneDx RCV000678311 SCV001989078 likely pathogenic not provided 2023-01-09 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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