ClinVar Miner

Submissions for variant NM_001606.5(ABCA2):c.4643C>T (p.Pro1548Leu)

gnomAD frequency: 0.00002  dbSNP: rs572276239
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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 RCV004290731 SCV003951436 uncertain significance not specified 2023-05-03 criteria provided, single submitter clinical testing The c.4733C>T (p.P1578L) alteration is located in exon 30 (coding exon 30) of the ABCA2 gene. This alteration results from a C to T substitution at nucleotide position 4733, causing the proline (P) at amino acid position 1578 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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