ClinVar Miner

Submissions for variant NM_000311.5(PRNP):c.424G>A (p.Gly142Ser)

gnomAD frequency: 0.00451  dbSNP: rs150351644
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000299881 SCV000434230 likely benign Inherited prion disease 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000990276 SCV001017479 benign Huntington disease-like 1 2024-01-15 criteria provided, single submitter clinical testing
Mendelics RCV000990276 SCV001141204 benign Huntington disease-like 1 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736731 SCV004563110 likely benign not provided 2023-09-21 criteria provided, single submitter clinical testing

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