ClinVar Miner

Submissions for variant NM_013296.5(GPSM2):c.1216C>T (p.Arg406Trp)

gnomAD frequency: 0.00061  dbSNP: rs141562079
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000970421 SCV000715010 benign not provided 2019-11-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000600202 SCV000966301 benign not specified 2018-09-12 criteria provided, single submitter clinical testing The p.Arg406Trp variant in GPSM2 is classified as benign because it has been ide ntified in 2.0% (387/18868) of East Asian chromosomes, including 3 homozygotes, by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org). A CMG/AMP Criteria applied: BA1.
Invitae RCV000970421 SCV001117998 benign not provided 2024-01-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001101472 SCV001258082 uncertain significance Chudley-McCullough syndrome 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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