ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.895C>T (p.Pro299Ser)

dbSNP: rs1349884233
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV001172508 SCV001335561 uncertain significance Monogenic diabetes 2018-07-27 criteria provided, single submitter research ACMG criteria: PM2, BP1 (missense in gene with truncating known), (REVEL score 0.242 + 9 BP4 predictors= conflicting evidence, not using)= VUS
Ambry Genetics RCV002375050 SCV002683813 uncertain significance Cardiovascular phenotype 2021-02-10 criteria provided, single submitter clinical testing The p.P300S variant (also known as c.898C>T), located in coding exon 5 of the ALMS1 gene, results from a C to T substitution at nucleotide position 898. The proline at codon 300 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and serine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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