ClinVar Miner

Submissions for variant NM_022437.3(ABCG8):c.647_657dup (p.Arg220fs)

dbSNP: rs1456237152
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593549 SCV000708488 pathogenic not provided 2017-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000593549 SCV000942214 pathogenic not provided 2024-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg220Valfs*37) in the ABCG8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCG8 are known to be pathogenic (PMID: 11452359, 15375183, 16029460). This variant is present in population databases (no rsID available, gnomAD 0.06%). This premature translational stop signal has been observed in individual(s) with ABCG8 (internal data). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 501952). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV004742533 SCV005364944 likely pathogenic ABCG8-related disorder 2024-09-06 no assertion criteria provided clinical testing The ABCG8 c.647_657dup11 variant is predicted to result in a frameshift and premature protein termination (p.Arg220Valfs*37). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.064% of alleles in individuals of Latino descent in gnomAD. Frameshift variants in ABCG8 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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