ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.445G>A (p.Val149Met)

gnomAD frequency: 0.00016  dbSNP: rs200606656
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589823 SCV000694466 uncertain significance not provided 2016-03-28 criteria provided, single submitter clinical testing Variant summary: This c.445G>A variant affects a conserved nucleotide, resulting in amino acid change from Val to Met. 4/5 in-silico tools predict this variant to be damaging. 5/5 programs in Alamut predict that this variant does not affect normal splicing. ESEFinder predicts that this variant may affect multiple ESE sites. However, this prediction has not been confirmed by experimental studies. This variant was found in 23/120652 control chromosomes from the broad and large populations of ExAC at a frequency of 0.0001906, which does not exceed the maximal expected frequency of a pathogenic allele (0.0054006) in this gene. To our knowledge, the variant of interest has not been reported in affected individuals via publications and/or reputable databases/clinical laboratories, nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant has currently been classified as a variant of uncertain significance (VUS) until additional information becomes available.
Invitae RCV001111262 SCV001015377 likely benign Wilson disease 2024-01-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001111262 SCV001268805 uncertain significance Wilson disease 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab RCV001111262 SCV001977196 uncertain significance Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002530887 SCV003681509 uncertain significance Inborn genetic diseases 2021-05-16 criteria provided, single submitter clinical testing The c.445G>A (p.V149M) alteration is located in exon 2 (coding exon 2) of the ATP7B gene. This alteration results from a G to A substitution at nucleotide position 445, causing the valine (V) at amino acid position 149 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001111262 SCV003834485 uncertain significance Wilson disease 2023-08-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001111262 SCV001460307 uncertain significance Wilson disease 2020-04-15 no assertion criteria provided clinical testing

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