Submissions for variant NM_001355436.2(SPTB):c.4837C>T (p.Pro1613Ser)

gnomAD frequency: 0.00004  dbSNP: rs375478086

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000375251	SCV000387727	uncertain significance	Elliptocytosis	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000283035	SCV000387728	uncertain significance	Spherocytosis, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Neuberg Centre For Genomic Medicine, NCGM	RCV003338569	SCV004047652	uncertain significance	Hereditary spherocytosis type 2		criteria provided, single submitter	clinical testing	The missense variant c.4837C>T(p.Pro1613Ser) has been submitted to ClinVar as a Variant of Uncertain Significance (VUS), but no details are available for independent assessment. This variant is reported with allele frequency of 0.1127% in gnomAD database. The amino acid change p.Pro1613Ser in SPTB is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Pro at position 1613 is changed to a Ser changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance (VUS).
Labcorp Genetics (formerly Invitae), Labcorp	RCV003546516	SCV004270197	benign	not provided	2023-08-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003910181	SCV004734504	benign	SPTB-related disorder	2019-05-08	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).