ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.4414C>T (p.Arg1472Cys) (rs782062633)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000960706 SCV001107718 likely benign not provided 2018-07-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000803 SCV001157865 uncertain significance not specified 2018-10-02 criteria provided, single submitter clinical testing The ATP7A c.4414C>T; p.Arg1472Cys variant (rs782062633), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the non-Finnish European population with an allele frequency of 0.005% (4/79,975 alleles, including 3 hemizygotes) in the Genome Aggregation Database. The arginine at codon 1472 is moderately conserved, and computational analyses (SIFT: tolerated, PolyPhen-2: possibly damaging) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Arg1472Cys variant is uncertain at this time.
Invitae RCV001435844 SCV001638673 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 2020-10-08 criteria provided, single submitter clinical testing

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