ClinVar Miner

Submissions for variant NM_138420.4(AHNAK2):c.3428C>G (p.Ala1143Gly)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003400832 SCV004137402 benign not provided 2022-06-01 criteria provided, single submitter clinical testing AHNAK2: BS1, BS2
Ambry Genetics RCV004364523 SCV004877158 uncertain significance not specified 2023-02-09 criteria provided, single submitter clinical testing The c.3428C>G (p.A1143G) alteration is located in exon 7 (coding exon 7) of the AHNAK2 gene. This alteration results from a C to G substitution at nucleotide position 3428, causing the alanine (A) at amino acid position 1143 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV003400832 SCV005296773 benign not provided criteria provided, single submitter not provided

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