ClinVar Miner

Submissions for variant NM_015909.4(NBAS):c.2524G>T (p.Val842Phe)

gnomAD frequency: 0.00001  dbSNP: rs1085307944
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489731 SCV000577709 likely pathogenic not provided 2021-12-07 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 26073778, 26578240, 26541327)
Labcorp Genetics (formerly Invitae), Labcorp RCV000489731 SCV002128879 uncertain significance not provided 2022-02-03 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 842 of the NBAS protein (p.Val842Phe). This variant is present in population databases (no rsID available, gnomAD 0.003%). This missense change has been observed in individual(s) with recurrent acute liver failure (PMID: 26073778). ClinVar contains an entry for this variant (Variation ID: 427078). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Undiagnosed Diseases Network, NIH RCV002280120 SCV002568419 uncertain significance Infantile liver failure syndrome 2 2022-06-13 criteria provided, single submitter clinical testing

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