ClinVar Miner

Submissions for variant NM_018404.3(ADAP2):c.1105C>T (p.Arg369Trp)

gnomAD frequency: 0.00001  dbSNP: rs201148730
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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 RCV005318322 SCV005986382 uncertain significance not specified 2025-02-25 criteria provided, single submitter clinical testing The c.1105C>T (p.R369W) alteration is located in exon 10 (coding exon 10) of the ADAP2 gene. This alteration results from a C to T substitution at nucleotide position 1105, causing the arginine (R) at amino acid position 369 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Richard Lifton Laboratory, Yale University School of Medicine RCV000122556 SCV000155064 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.

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