ClinVar Miner

Submissions for variant NM_001127.4(AP1B1):c.1828C>G (p.Pro610Ala)

dbSNP: rs750467942
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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 RCV002719680 SCV003737650 uncertain significance Inborn genetic diseases 2024-08-12 criteria provided, single submitter clinical testing The c.1828C>G (p.P610A) alteration is located in exon 14 (coding exon 13) of the AP1B1 gene. This alteration results from a C to G substitution at nucleotide position 1828, causing the proline (P) at amino acid position 610 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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