ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.4001C>T (p.Ala1334Val)

gnomAD frequency: 0.00036  dbSNP: rs113139501
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756712 SCV000884602 likely benign not provided 2023-02-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000756712 SCV002376701 likely benign not provided 2021-11-22 criteria provided, single submitter clinical testing
GeneDx RCV000756712 SCV003840306 uncertain significance not provided 2022-09-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Reported in the heterozygous state in an individual with hereditary spherocytosis, but familial segregation information was not provided and a potentially causative variant was identified in another gene (Tole et al., 2020); This variant is associated with the following publications: (PMID: 32436265)

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