ClinVar Miner

Submissions for variant NM_013296.5(GPSM2):c.515AAG[1] (p.Glu173del)

dbSNP: rs145997327
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657155 SCV000574142 uncertain significance not provided 2024-12-11 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000486151 SCV000732013 likely benign not specified 2019-03-15 criteria provided, single submitter clinical testing The p.Glu173del variant in GPSM2 is classified as likely benign because it has been identified in 0.23% (58/24964) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org), which is too common to cause Chudley-McCullough syndrome. ACMG/AMP criteria applied: BS1.
Labcorp Genetics (formerly Invitae), Labcorp RCV000657155 SCV002484402 likely benign not provided 2022-08-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002526981 SCV003569734 likely benign Inborn genetic diseases 2022-05-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003960132 SCV004771372 likely benign GPSM2-related disorder 2022-10-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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