ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.6041T>G (p.Phe2014Cys)

dbSNP: rs2082214097
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV001089553 SCV001244764 uncertain significance Elliptocytosis 3 2017-09-28 criteria provided, single submitter clinical testing A homozygous missense variant was identified, NM_000347.5(SPTB):c.6041T>G in exon 29 of the SPTB gene.This substitution creates a major amino acid change from a phenylalanine to a cysteine at position 2014, NP_000338.3(SPTB):p.(Phe2014Cys).The phenylalanine at this position has very high conservation (100 vertebrates, UCSC), and is situated ina spectrin domain. In silico tools predict this variant to be deleterious (SIFT, Mutation Taster).This variant is not present in the gnomAD population database and has not been previously observed in other clinical cases. Based on current information, this variant has been classified as a VARIANT of UNKNOWN SIGNIFICANCE (VUS) with HIGH clinical significance.

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