ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu)

gnomAD frequency: 0.01289  dbSNP: rs7958709
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000250304 SCV000314274 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000344025 SCV000375435 likely benign Pseudo-Hurler polydystrophy 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.
Illumina Laboratory Services, Illumina RCV000032285 SCV000375436 likely benign Mucolipidosis type II 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000437039 SCV000511822 likely benign not provided 2017-01-24 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001079378 SCV001122615 benign Mucolipidosis type II; Pseudo-Hurler polydystrophy 2024-02-01 criteria provided, single submitter clinical testing
Mendelics RCV000032285 SCV001138795 likely benign Mucolipidosis type II 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV000437039 SCV001816620 likely benign not provided 2019-03-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27884173, 19617216, 25505245, 22995991)
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV000250304 SCV001984551 benign not specified 2020-03-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000250304 SCV002051009 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001079378 SCV002795038 likely benign Mucolipidosis type II; Pseudo-Hurler polydystrophy 2021-09-09 criteria provided, single submitter clinical testing
GeneReviews RCV000032285 SCV000055928 not provided Mucolipidosis type II no assertion provided literature only
Mayo Clinic Laboratories, Mayo Clinic RCV000437039 SCV000800956 benign not provided 2017-09-27 no assertion criteria provided clinical testing
Natera, Inc. RCV000032285 SCV001463446 benign Mucolipidosis type II 2020-01-09 no assertion criteria provided clinical testing

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