ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.2019A>G (p.Lys673=)

gnomAD frequency: 0.00005  dbSNP: rs551905649
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000945040 SCV001091024 benign Mucolipidosis type II; Pseudo-Hurler polydystrophy 2024-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002545983 SCV003595293 likely benign Inborn genetic diseases 2021-12-16 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.
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS RCV000945040 SCV001338690 likely benign Mucolipidosis type II; Pseudo-Hurler polydystrophy 2019-01-01 no assertion criteria provided research
Natera, Inc. RCV001276851 SCV001463437 uncertain significance Mucolipidosis type II 2020-04-17 no assertion criteria provided clinical testing

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