ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.2234G>A (p.Gly745Glu)

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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 RCV003490456 SCV004234226 uncertain significance Hereditary spherocytosis type 1 2023-07-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004364864 SCV004899267 uncertain significance Inborn genetic diseases 2022-01-26 criteria provided, single submitter clinical testing The c.2234G>A (p.G745E) alteration is located in exon 20 (coding exon 20) of the ANK1 gene. This alteration results from a G to A substitution at nucleotide position 2234, causing the glycine (G) at amino acid position 745 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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