ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) (rs141322087)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029255 SCV000051901 likely pathogenic Neonatal diabetes mellitus 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626670 SCV000747372 likely pathogenic Atrial septal defect; Short stature; Feeding difficulties; Hypoglycemia; Growth delay; Congestive heart failure; Macrotia; Macrocephalus; Small for gestational age; Cardiac shunt; Gastroesophageal reflux; Neonatal respiratory distress 2017-01-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196917 SCV001367551 uncertain significance Autistic behavior; Delayed speech and language development; Impaired social interactions; Intellectual disability; Severe global developmental delay; Attention deficit hyperactivity disorder 2018-10-24 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3. This variant was detected in heterozygous state.
Broad Institute Rare Disease Group,Broad Institute RCV001249021 SCV001422928 uncertain significance Monogenic diabetes 2020-01-22 no assertion criteria provided curation The p.Val1173Met variant in ABCC8 has been reported in 1 individual with Monogenic Diabetes in ClinVar (Variation ID: 35609), and has been identified in 0.003098% (4/129110) of European (non-Finnish) chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs141322087). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a carrier frequency. Please note that for diseases with clinical variability, or reduced penetrance, pathogenic variants may be present at a low frequency in the general population. This variant has also been reported likely pathogenic in ClinVar (Variation ID: 35609). Computational prediction tools and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Val1173Met variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting, BP4 (Richards 2015).

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