Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000967688 | SCV001115095 | likely benign | Mucolipidosis type II; Pseudo-Hurler polydystrophy | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001112931 | SCV001270646 | 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). 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, |
RCV001112932 | SCV001270647 | 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. |
Gene |
RCV003332274 | SCV004039725 | uncertain significance | not provided | 2023-09-30 | criteria provided, single submitter | clinical testing | Reported in association with mucolipidosis; however, detailed clinical information was not provided (PMID: 30882951); Functional studies suggest a reduction of enzymatic activity for the F24V mutant; however, it is unclear whether the reduction is significant for pathogenicity (PMID: 32220096); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26130485, 30882951, 32220096) |
Natera, |
RCV001112931 | SCV001455409 | likely benign | Mucolipidosis type II | 2020-04-17 | no assertion criteria provided | clinical testing |