ClinVar Miner

Submissions for variant NM_001606.5(ABCA2):c.4133C>T (p.Ser1378Phe)

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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 RCV004907635 SCV005574621 uncertain significance not specified 2024-11-08 criteria provided, single submitter clinical testing The c.4223C>T (p.S1408F) alteration is located in exon 27 (coding exon 27) of the ABCA2 gene. This alteration results from a C to T substitution at nucleotide position 4223, causing the serine (S) at amino acid position 1408 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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