ClinVar Miner

Submissions for variant NM_138420.4(AHNAK2):c.4970A>G (p.Lys1657Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003411123 SCV004137358 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing AHNAK2: BP4, BS2
Ambry Genetics RCV004621789 SCV005115705 uncertain significance not specified 2024-04-19 criteria provided, single submitter clinical testing The c.4970A>G (p.K1657R) alteration is located in exon 7 (coding exon 7) of the AHNAK2 gene. This alteration results from a A to G substitution at nucleotide position 4970, causing the lysine (K) at amino acid position 1657 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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