ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.4403G>T (p.Gly1468Val) (rs78102263)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088077 SCV000290088 likely benign Alstrom syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000520376 SCV000620230 uncertain significance not provided 2018-07-02 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ALMS1 gene. The G1468V variant has not been published as pathogenic or benign to our knowledge. It has been observed in several other individuals referred for cardiac genetic testing at GeneDx but these individuals harbored additional cardiogenetic variants in other genes. This variant has also been observed in 70/24006 (0.3%) alleles from individuals of African ancestry in large population cohorts (Lek et al., 2016). The G1468V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Nevertheless, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV001172521 SCV001335574 likely benign Monogenic diabetes 2018-12-07 criteria provided, single submitter research ACMG criteria: BP4 (REVEL 0.031 + 6 predictors; not using PP3/3 predictors) + BP1 (truncating cause disease) = likely benign

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