ClinVar Miner

Submissions for variant NM_001606.5(ABCA2):c.3349C>T (p.Arg1117Trp)

gnomAD frequency: 0.00001  dbSNP: rs1195370052
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004349961 SCV004071752 uncertain significance not specified 2023-06-28 criteria provided, single submitter clinical testing The c.3439C>T (p.R1147W) alteration is located in exon 23 (coding exon 23) of the ABCA2 gene. This alteration results from a C to T substitution at nucleotide position 3439, causing the arginine (R) at amino acid position 1147 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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