ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3607A>G (p.Ser1203Gly) (rs78875649)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000771610 SCV000904214 likely benign Familial hypercholesterolemia 2018-05-16 criteria provided, single submitter clinical testing Likely Benign based on current evidence: This variant (also known as p.Ser1176Gly in the mature protein) is a missense variant located in the beta1 domain of the APOB protein. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein function. Computational splicing tools suggest that this variant may not impact the RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has the variant been reported in individuals affected with familial hypercholesterolemia in the literature. This variant has been identified in 31/18870 East Asian chromosomes (0.16%) in the general population by the Genome Aggregation Database (gnomAD). This variant allele frequency is greater than expected for the disorder based on prevalence, penetrance, and genetic heterogeneity. Based on available evidence, this variant is classified as Likely Benign.
Invitae RCV000867512 SCV001008748 likely benign not provided 2018-07-09 criteria provided, single submitter clinical testing

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