ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.316-37G>T

gnomAD frequency: 0.00058  dbSNP: rs193922559
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029986 SCV000052641 benign not specified 2022-05-06 criteria provided, single submitter clinical testing Variant summary: HBB c.316-37G>T is located at a deep intronic position, affecting a non-conserved nucleotide. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00025 in 281734 control chromosomes, predominantly at a frequency of 0.0027 within the African or African-American subpopulation in the gnomAD database. This frequency is somewhat lower than the estimated maximum expected for a pathogenic variant in HBB causing Hemoglobinopathy (0.011), allowing no conclusion about variant significance. The variant, c.316-37G>T, has been reported in the literature in an individual affected with mild B-thalassemia trait (Mason_2016), however this individual also carried a common pathogenic HBB variant (c.-79A>G; phase not specified), which could explain the phenotype. Four samples tested internally by our laboratory have been found to carry the variant, c.316-37G>T, in addition to two pathogenic HBB mutations, providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as benign (n=1) or likely benign(n=1). Based on the evidence outlined above, the variant was classified as benign.
Invitae RCV000978010 SCV001125934 benign not provided 2024-01-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000978010 SCV001156555 likely benign not provided 2019-12-05 criteria provided, single submitter clinical testing

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