ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.4724A>G (p.Asn1575Ser)

gnomAD frequency: 0.00002  dbSNP: rs777879292
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002497640 SCV002804023 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033083 SCV003566441 uncertain significance Cardiovascular phenotype 2021-08-09 criteria provided, single submitter clinical testing The c.4724A>G (p.N1575S) alteration is located in exon 26 (coding exon 26) of the APOB gene. This alteration results from a A to G substitution at nucleotide position 4724, causing the asparagine (N) at amino acid position 1575 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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