ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.505T>C (p.Trp169Arg)

dbSNP: rs756455049
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000171533 SCV000221732 likely pathogenic not provided criteria provided, single submitter research
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine RCV001728167 SCV004175760 pathogenic Farber lipogranulomatosis 2023-03-01 criteria provided, single submitter clinical testing The missense/ splice region variant c.505T>C (p.Trp169Arg) in the ASAH1 gene has been reported previously in compound heterozygous and homozygous states in individuals affected with Farber's Disease. Experimental studies have shown that this missense change affects protein function (Gebai et al., 2018; Moghadam et al., 2019). This variant is reported with the allele frequency (0.0003%) in the gnomAD and novel in the 1000 genome database. It is submitted to ClinVar with varying interpretations as Pathogenic/ Likely Pathogenic. The amino acid Tryptophan at position 169 is changed to an Arginine changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted as damaging by SIFT. The amino acid change p.Trp169Arg in ASAH1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV001728167 SCV001976493 pathogenic Farber lipogranulomatosis 2021-10-04 no assertion criteria provided literature only

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