ClinVar Miner

Submissions for variant NM_024996.7(GFM1):c.1429G>T (p.Asp477Tyr)

gnomAD frequency: 0.00001  dbSNP: rs138058648
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757328 SCV000885510 uncertain significance not provided 2017-07-18 criteria provided, single submitter clinical testing The p.Asp477Tyr variant (rs138058648) has not been reported in the medical literature, is not listed in gene-specific variant databases, nor has it been previously identified in our laboratory. It is listed in the Genome Aggregation Database (gnomAD) browser with a frequency in non-Finnish Europeans of 0.004% (identified in 4 out of 109,818 chromosomes).The aspartic acid at codon 477 is highly conserved considering 12 species up to Baker’s yeast (Alamut software v2.9), and computational analyses suggest this variant has a significant effect on GFM1 protein structure/function (SIFT: damaging, PolyPhen2: probably damaging, and Mutation Taster: disease causing). However, based on the available information, the clinical significance of the p.Asp477Tyr variant cannot be determined with certainty.
Natera, Inc. RCV001825499 SCV002081600 uncertain significance Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 2019-10-28 no assertion criteria provided clinical testing

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