ClinVar Miner

Submissions for variant NM_000517.6(HBA2):c.106T>C (p.Ser36Pro)

dbSNP: rs63750776
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284140 SCV001469766 likely pathogenic not provided 2021-01-13 criteria provided, single submitter clinical testing The variant has been reported as a variant having an alpha thalassemia-like phenotype. It has been observed in heterozygous carriers from a Portuguese family and associated with moderate erythrocytosis, microcytosis, and hypochromia (PMID: 17296578 (2007)). This variant was described as being unstable and causing Hb H disease in a severely affected infant with the Filipino deletional mutation (--FIL) on the other allele (PMID: 11722414 (2001)). This variant has not been reported in large, multi-ethnic general populations.
OMIM RCV001678591 SCV000043899 other HEMOGLOBIN H HYDROPS FETALIS SYNDROME 2016-10-13 no assertion criteria provided literature only

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