ClinVar Miner

Submissions for variant NM_198506.5(LRIT3):c.379G>T (p.Asp127Tyr)

gnomAD frequency: 0.00081  dbSNP: rs148810231
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176006 SCV000227586 uncertain significance not provided 2014-11-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000284226 SCV000446899 uncertain significance Congenital stationary night blindness 1F 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000176006 SCV001728304 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816275 SCV005069401 uncertain significance Optic atrophy 2022-01-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977435 SCV004790201 benign LRIT3-related disorder 2020-12-17 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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