ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.5422G>A (p.Glu1808Lys)

gnomAD frequency: 0.00017  dbSNP: rs143950158
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774273 SCV002002086 uncertain significance not provided 2020-06-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001774273 SCV003291784 benign not provided 2023-07-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004968268 SCV005505379 uncertain significance Inborn genetic diseases 2024-12-02 criteria provided, single submitter clinical testing The c.5422G>A (p.E1808K) alteration is located in exon 25 (coding exon 25) of the SPTB gene. This alteration results from a G to A substitution at nucleotide position 5422, causing the glutamic acid (E) at amino acid position 1808 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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