ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9083G>A (p.Cys3028Tyr) (rs565501407)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000844914 SCV000986721 not provided Alstrom syndrome no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 01/15/2018 by GTR ID Blueprint Genetics. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Sydney Genome Diagnostics,Children's Hospital Westmead RCV001328235 SCV001449182 uncertain significance Nephrotic syndrome 2017-11-17 no assertion criteria provided clinical testing This individual is heterozygous for the c.9080G>A p.(Cys3027Tyr) variant in the ALMS1 gene. To our knowledge, this variant has not been previously reported in the literature or any disease specific databases to be a disease causing variant. This variant has been reported in the gnomAD browser (http://gnomad.broadinstitute.org) with a low allele frequency of 0.03% (9/ 30,780 alleles). In silico analysis of pathogenicity (through Alamut Visual v2.8.1) using PolyPhen2, SIFT, MutationTaster and Align GVGD suggest that this variant does not affect protein function and is likely to be benign. However, this analysis alone cannot be used to exclude pathogenicity. This variant is considered to be a variant of uncertain clinical significance (VOUS) according to the ACMG guidelines.

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