ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.7740G>C (p.Glu2580Asp) (rs543921060)

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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 RCV000844913 SCV000986720 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 RCV001328120 SCV001449181 uncertain significance Nephrotic syndrome 2017-11-17 no assertion criteria provided clinical testing This individual is heterozygous for the c.7737G>C p.(Glu2579Asp) 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% (9/30,778 alleles). In silico analysis of pathogenicity (through Alamut Visual v2.8.1) is inconclusive regarding this change; PolyPhen2 and SIFT predicts it to be likely pathogenic whereas MutationTaster and Align GVD predicts this variant to be benign. This variant is considered to be a variant of uncertain clinical significance (VOUS) according to the ACMG guidelines.

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