ClinVar Miner

Submissions for variant NM_001620.3(AHNAK):c.2578G>A (p.Asp860Asn)

gnomAD frequency: 0.00020  dbSNP: rs200147726
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000929673 SCV001075308 likely benign not provided 2018-06-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029554 SCV004873408 uncertain significance not specified 2024-01-16 criteria provided, single submitter clinical testing The c.2578G>A (p.D860N) alteration is located in exon 5 (coding exon 3) of the AHNAK gene. This alteration results from a G to A substitution at nucleotide position 2578, causing the aspartic acid (D) at amino acid position 860 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000929673 SCV005224424 likely benign not provided criteria provided, single submitter not provided

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