ClinVar Miner

Submissions for variant NM_000147.5(FUCA1):c.422G>T (p.Gly141Val)

dbSNP: rs753232669
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000578355 SCV000680241 likely pathogenic Fucosidosis 2017-11-08 criteria provided, single submitter clinical testing
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences RCV000578355 SCV001244260 likely pathogenic Fucosidosis 2019-07-05 criteria provided, single submitter research
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004701672 SCV005204520 uncertain significance not specified 2024-06-11 criteria provided, single submitter clinical testing Variant summary: FUCA1 c.422G>T (p.Gly141Val) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251490 control chromosomes. c.422G>T has been reported in the literature in at-least one individual affected with Fucosidosis (example: Mahdieh_2021). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication havs been ascertained in the context of this evaluation (PMID: 33547378). ClinVar contains an entry for this variant (Variation ID: 488520). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.
GeneDx RCV004787966 SCV005401461 uncertain significance not provided 2024-05-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33547378)
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, RCV000578355 SCV001244926 uncertain significance Fucosidosis no assertion criteria provided clinical testing

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