ClinVar Miner

Submissions for variant NM_138420.4(AHNAK2):c.4544C>T (p.Ser1515Leu)

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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 RCV004253645 SCV003876702 uncertain significance not specified 2023-02-15 criteria provided, single submitter clinical testing The c.4544C>T (p.S1515L) alteration is located in exon 7 (coding exon 7) of the AHNAK2 gene. This alteration results from a C to T substitution at nucleotide position 4544, causing the serine (S) at amino acid position 1515 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003396943 SCV004137372 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing AHNAK2: BP4, BS1

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