ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr) (rs368622356)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000445022 SCV000531041 uncertain significance not provided 2018-02-26 criteria provided, single submitter clinical testing The A334T variant of uncertain significance in the ATP7A gene has not been published as pathogenic or been reported as benign to our knowledge. This variant is also observed in 0.01%-0.02% alleles, including nine hemizygous individuals, across ethnic groups in large population cohorts (Lek et al., 2016), indicating it may be a rare benign variant. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Nevertheless, the A334T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Invitae RCV001085591 SCV001092198 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 2019-12-31 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196180 SCV001366715 uncertain significance Plagiocephaly; Focal seizures with impairment of consciousness or awareness; Muscular hypotonia of the trunk; Febrile seizures; Delayed speech and language development; Generalized tonic-clonic seizures; Enlarged cisterna magna; Complex febrile seizures 2019-08-17 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2. This variant was detected in heterozygous state.

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