ClinVar Miner

Submissions for variant NM_000517.6(HBA2):c.300+1G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003120280 SCV003800476 likely pathogenic not provided 2022-05-25 criteria provided, single submitter clinical testing The HBA2 c.300+1G>A variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This variant disrupts the canonical splice donor site of intron two, which is likely to negatively impact gene function. Based on available information, this variant is considered to be likely pathogenic.
Department of Medical Genomics, Royal Prince Alfred Hospital RCV003984350 SCV004800831 pathogenic alpha Thalassemia 2024-03-12 no assertion criteria provided clinical testing This variant is observed in a patient with hypochromia and borderline low MCV. Haemoglobin level, ferritin and HbA2 levels were normal. No Hb H inclusion detected. Screening for deletional alpha thalassaemia was negative.

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