ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.1853C>A (p.Ala618Asp)

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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 RCV005289065 SCV005952232 uncertain significance Inborn genetic diseases 2025-01-23 criteria provided, single submitter clinical testing The c.1853C>A (p.A618D) alteration is located in exon 11 (coding exon 10) of the TAP2 gene. This alteration results from a C to A substitution at nucleotide position 1853, causing the alanine (A) at amino acid position 618 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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