ClinVar Miner

Submissions for variant NM_001606.5(ABCA2):c.4148G>A (p.Arg1383His)

gnomAD frequency: 0.00004  dbSNP: rs772864842
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002276499 SCV002564332 uncertain significance Intellectual developmental disorder with poor growth and with or without seizures or ataxia 2021-08-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004617027 SCV005115101 uncertain significance not specified 2024-05-30 criteria provided, single submitter clinical testing The c.4238G>A (p.R1413H) alteration is located in exon 27 (coding exon 27) of the ABCA2 gene. This alteration results from a G to A substitution at nucleotide position 4238, causing the arginine (R) at amino acid position 1413 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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