ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.500T>A (p.Ile167Asn)

gnomAD frequency: 0.00049  dbSNP: rs143907628
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000333955 SCV000331063 uncertain significance not provided 2016-02-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765037 SCV000896232 uncertain significance Mucolipidosis type II; Pseudo-Hurler polydystrophy 2018-10-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001110169 SCV001267570 uncertain significance Pseudo-Hurler polydystrophy 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.
Illumina Laboratory Services, Illumina RCV001114209 SCV001272060 uncertain significance Mucolipidosis type II 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000765037 SCV002383349 likely benign Mucolipidosis type II; Pseudo-Hurler polydystrophy 2025-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002519075 SCV003637340 likely benign Inborn genetic diseases 2021-07-30 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.

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