ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.1422G>A (p.Gly474=)

gnomAD frequency: 0.00001  dbSNP: rs775742250
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000675292 SCV001148804 uncertain significance not provided 2019-02-01 criteria provided, single submitter clinical testing
Invitae RCV001443181 SCV001646150 likely benign Mucolipidosis type II; Pseudo-Hurler polydystrophy 2024-01-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980296 SCV004790477 likely benign GNPTAB-related condition 2019-02-27 criteria provided, single submitter 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).
Mayo Clinic Laboratories, Mayo Clinic RCV000675292 SCV000800954 likely benign not provided 2017-05-01 no assertion criteria provided clinical testing

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