ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.4678G>A (p.Glu1560Lys)

gnomAD frequency: 0.00009  dbSNP: rs770936696
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000981763 SCV001245702 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing GLI2: BS1
Illumina Laboratory Services, Illumina RCV001136007 SCV001295825 likely benign Holoprosencephaly 9 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV001455514 SCV001659276 likely benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2022-10-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002550569 SCV003701211 likely benign Inborn genetic diseases 2022-01-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences RCV003953380 SCV004768661 likely benign GLI2-related condition 2023-02-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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