ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.479G>A (p.Gly160Glu)

gnomAD frequency: 0.00601  dbSNP: rs186758849
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178911 SCV000231091 benign not specified 2014-10-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000658609 SCV000780387 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing TCIRG1: BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV000658609 SCV001027329 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001114992 SCV001272923 benign Autosomal recessive osteopetrosis 1 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000178911 SCV002103802 benign not specified 2022-02-18 criteria provided, single submitter clinical testing Variant summary: TCIRG1 c.479G>A (p.Gly160Glu) results in a non-conservative amino acid change in the encoded protein sequence. Two of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.005 in 155404 control chromosomes in the gnomAD database, including 3 homozygotes. The observed variant frequency is approximately 3.0 fold of the estimated maximal expected allele frequency for a pathogenic variant in TCIRG1 causing Osteopetrosis phenotype (0.0016), strongly suggesting that the variant is benign. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.
Breakthrough Genomics, Breakthrough Genomics RCV000658609 SCV005216247 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001114992 SCV002094900 likely benign Autosomal recessive osteopetrosis 1 2019-11-13 no assertion criteria provided clinical testing

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