ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.327C>T (p.Asn109=)

gnomAD frequency: 0.00001  dbSNP: rs34933751
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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 RCV001731798 SCV000697121 likely benign not specified 2021-09-08 criteria provided, single submitter clinical testing Variant summary: HBB c.327C>T alters a non-conserved nucleotide resulting in a synonymous change. 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 8e-06 in 251212 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.327C>T in individuals affected with Beta Thalassemia and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000587854 SCV001088145 likely benign not provided 2024-05-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835859 SCV002089189 likely benign beta Thalassemia 2021-02-19 no assertion criteria provided clinical testing

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