ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His) (rs377297166)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586771 SCV000694447 uncertain significance not provided 2016-08-30 criteria provided, single submitter clinical testing Variant summary: The ATP7B c.3452G>A (p.Arg1151His) variant involves the alteration of a conserved nucleotide and this variant is located in the P-type ATPase and/or cytoplasmic domain N which is critical for ATP binding. 5/5 in silico tools predict a damaging outcome for this variant. This variant was found in 2/120874 control chromosomes at a frequency of 0.0000165, which does not exceed the estimated maximal expected allele frequency of a pathogenic ATP7B variant (0.0054006). This variant has been reported in at least 3 WD patients (Loudianos_1999, Li_2011, Dong_2016), one was mentioned to be compound heterozygotes of this variant and Gly1089Glu. One internal sample carries this variant and a pathogenic variant (p.His1069Gln); clinical status as well as phase of the variants unknown. One in vitro study showed that this variant mildly affects the structure and ATP-binding activity of ATP7B protein using N-domain fragment (Morgan_2004). In addition, one reputable database classified this variant as disease variant. Taken together, this variant is classified as VUS-possibly pathogenic.
Counsyl RCV000666672 SCV000791002 likely pathogenic Wilson disease 2017-10-09 criteria provided, single submitter clinical testing

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