ClinVar Miner

Submissions for variant NM_001114134.2(EPB42):c.955C>A (p.Gln319Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003147087 SCV003833503 uncertain significance Hereditary spherocytosis type 5 2021-10-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004246140 SCV004865629 uncertain significance Inborn genetic diseases 2022-08-08 criteria provided, single submitter clinical testing The c.1045C>A (p.Q349K) alteration is located in exon 7 (coding exon 7) of the EPB42 gene. This alteration results from a C to A substitution at nucleotide position 1045, causing the glutamine (Q) at amino acid position 349 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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