ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.1228G>A (p.Val410Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003190513 SCV003879881 uncertain significance Inborn genetic diseases 2023-01-26 criteria provided, single submitter clinical testing The c.1228G>A (p.V410M) alteration is located in exon 12 (coding exon 12) of the ANK1 gene. This alteration results from a G to A substitution at nucleotide position 1228, causing the valine (V) at amino acid position 410 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003992749 SCV004810326 uncertain significance Hereditary spherocytosis type 1 2024-04-04 criteria provided, single submitter clinical testing

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