ClinVar Miner

Submissions for variant NM_001606.5(ABCA2):c.745C>T (p.Arg249Trp)

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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 RCV004623482 SCV005115918 uncertain significance not specified 2024-04-08 criteria provided, single submitter clinical testing The c.835C>T (p.R279W) alteration is located in exon 8 (coding exon 8) of the ABCA2 gene. This alteration results from a C to T substitution at nucleotide position 835, causing the arginine (R) at amino acid position 279 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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