ClinVar Miner

Submissions for variant NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter) (rs374913800)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000578484 SCV000916030 uncertain significance Night blindness, congenital stationary, type 1g 2018-08-30 criteria provided, single submitter clinical testing The GNAT1 c.904C>T (p.Gln302Ter) stop-gained variant has been reported in a homozygous state in an individual with congenital stationary night blindness and in a heterozygous state in their unaffected child. The phenotype of the homozygous individual was similar in presentation to GNAT1 knockout mice (Carrigan et al. 2016). Control data are unavailable for this variant, which is reported at a frequency of 0.00008 in the non-Finnish European population of the Exome Aggregation Consortium. The evidence for this variant is limited. The p.Gln302Ter variant is therefore classified as a variant of unknown significance but suspicious for pathogenicity for autosomal recessive congenital stationary night blindness. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Illumina Clinical Services Laboratory,Illumina RCV001150687 SCV001311775 benign Congenital stationary night blindness, autosomal dominant 3 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
OMIM RCV000578484 SCV000680485 pathogenic Night blindness, congenital stationary, type 1g 2018-02-07 no assertion criteria provided literature only

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