ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.12079A>G (p.Arg4027Gly) (rs754439156)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000735892 SCV000864124 uncertain significance not specified 2017-01-23 criteria provided, single submitter clinical testing Variant summary: The ALMS1 c.12073A>G (p.Arg4025Gly, alternative name c.12079A>G) variant causes a missense change involving a non-conserved nucleotide, which 3/4 in silico tools (SNPs&GO not captured due to low reliability index) predict a damaging outcome, although these predicitons have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 3/120666 (1/40225), predominantly in the East Asian cohort, 3/8628 (1/2876), which does not exceed the estimated maximal expected allele frequency for a pathogenic ALMS1 variant of 1/447. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Therefore, until additional information becomes available (ie, clinical and functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)."
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV001172502 SCV001335555 likely benign Monogenic diabetes 2017-05-19 criteria provided, single submitter research ACMG criteria: PP3 (3 predictors), BP4 (6 predictors), BP1 (missense when truncating is disease causing)=likely benign

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