ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.772-4A>G

gnomAD frequency: 0.06806  dbSNP: rs17561000
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079066 SCV000110935 benign not specified 2012-12-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000079066 SCV000304658 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000351167 SCV000458181 benign Sandhoff disease 2018-01-12 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590368 SCV000697177 benign not provided 2016-11-25 criteria provided, single submitter clinical testing Variant summary: The HEXB c.772-4A>G variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a polymorphism outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 8848/121370 control chromosomes (502 homozygotes) at a frequency of 0.072901, which is approximately 49 times the estimated maximal expected allele frequency of a pathogenic HEXB variant (0.001479), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
Invitae RCV000351167 SCV001723832 benign Sandhoff disease 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000351167 SCV001762880 benign Sandhoff disease 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000590368 SCV001855575 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000590368 SCV000801319 benign not provided 2015-10-23 no assertion criteria provided clinical testing
Natera, Inc. RCV000351167 SCV001457613 benign Sandhoff disease 2020-09-16 no assertion criteria provided clinical testing

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