ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.7577T>C (p.Met2526Thr)

gnomAD frequency: 0.00015  dbSNP: rs373272476
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001838474 SCV001486725 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-08-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002393701 SCV002672959 uncertain significance Cardiovascular phenotype 2023-10-10 criteria provided, single submitter clinical testing The c.7577T>C (p.M2526T) alteration is located in exon 26 (coding exon 26) of the APOB gene. This alteration results from a T to C substitution at nucleotide position 7577, causing the methionine (M) at amino acid position 2526 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV001838474 SCV002812771 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-08-25 criteria provided, single submitter clinical testing

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