ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.332T>C (p.Leu111Pro) (rs35256489)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029991 SCV000052646 pathogenic Beta thalassemia major 2015-04-30 no assertion criteria provided clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589517 SCV000697122 pathogenic beta Thalassemia 2016-08-26 criteria provided, single submitter clinical testing Variant summary: The HBB c.332T>C (p.Leu111Pro) variant causes a missense change involving a conserved nucleotide with 4/4 in silico tools (SNPs&GO not captured due to low reliability index) predicting a "damaging" outcome. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 1/121382, which does not exceed the estimated maximal expected allele frequency for a pathogenic HBB variant of 1/89. The variant of interest has been reported in multiple affected individuals in both homozygous and compound heterozygous states. In addition, a reputable database cites the variant as "pathogenic." Therefore, the variant of interest has been classified as Pathogenic.
OMIM RCV000016598 SCV000036867 other HEMOGLOBIN SHOWA-YAKUSHIJI 2017-12-12 no assertion criteria provided literature only
OMIM RCV000016599 SCV000036868 pathogenic Beta-plus-thalassemia 2005-01-01 no assertion criteria provided literature only
OMIM RCV000016600 SCV000036869 pathogenic Beta-showa-yakushiji thalassemia 2005-01-01 no assertion criteria provided literature only

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