Submissions for variant NM_024312.5(GNPTAB):c.3197C>T (p.Thr1066Met)

gnomAD frequency: 0.00720  dbSNP: rs34083392

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000311094	SCV000375400	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000368145	SCV000375401	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000974742	SCV001122595	benign	Mucolipidosis type II; Pseudo-Hurler polydystrophy	2024-01-29	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000974742	SCV002795482	likely benign	Mucolipidosis type II; Pseudo-Hurler polydystrophy	2021-09-08	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004703611	SCV005216768	likely benign	not provided		criteria provided, single submitter	not provided