Submissions for variant NM_032520.5(GNPTG):c.264C>T (p.Asn88=)

gnomAD frequency: 0.00034  dbSNP: rs145313679

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625460	SCV000745460	likely benign	GNPTG-mucolipidosis	2017-11-14	criteria provided, single submitter	clinical testing
Invitae	RCV000880814	SCV001023936	likely benign	not provided	2024-01-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000625460	SCV001276335	uncertain significance	GNPTG-mucolipidosis	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). 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.
Genome-Nilou Lab	RCV000625460	SCV002045541	likely benign	GNPTG-mucolipidosis	2021-11-07	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001701136	SCV001923321	benign	not specified		no assertion criteria provided	clinical testing