ClinVar Miner

Submissions for variant NM_001620.3(AHNAK):c.15977C>T (p.Ala5326Val)

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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 RCV004205393 SCV003703907 uncertain significance not specified 2024-08-26 criteria provided, single submitter clinical testing The c.15977C>T (p.A5326V) alteration is located in exon 5 (coding exon 3) of the AHNAK gene. This alteration results from a C to T substitution at nucleotide position 15977, causing the alanine (A) at amino acid position 5326 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003883928 SCV004700876 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing AHNAK: BP4, BS2

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