ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.5126T>C (p.Ile1709Thr)

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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 RCV003141379 SCV003826293 uncertain significance Hereditary spherocytosis type 1 2022-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV003164851 SCV003898511 uncertain significance Inborn genetic diseases 2023-02-13 criteria provided, single submitter clinical testing The c.5126T>C (p.I1709T) alteration is located in exon 39 (coding exon 39) of the ANK1 gene. This alteration results from a T to C substitution at nucleotide position 5126, causing the isoleucine (I) at amino acid position 1709 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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