ClinVar Miner

Submissions for variant NM_032520.5(GNPTG):c.255G>A (p.Pro85=)

gnomAD frequency: 0.00606  dbSNP: rs76594024
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000270851 SCV000394948 likely benign GNPTG-mucolipidosis 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Center for Human Genetics Tuebingen RCV000513198 SCV000608739 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Invitae RCV000513198 SCV001097717 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000513198 SCV001784684 likely benign not provided 2019-04-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000270851 SCV002045540 benign GNPTG-mucolipidosis 2021-11-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920340 SCV004729687 benign GNPTG-related condition 2019-11-15 criteria provided, single submitter clinical testing This variant is classified as 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 RCV000513198 SCV000801700 likely benign not provided 2015-12-16 no assertion criteria provided clinical testing
Natera, Inc. RCV000270851 SCV001462085 benign GNPTG-mucolipidosis 2020-09-16 no assertion criteria provided clinical testing

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