ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.4267C>T (p.Arg1423Trp)

dbSNP: rs149079962
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001404689 SCV001606597 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2023-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002332942 SCV002631550 uncertain significance Inborn genetic diseases 2020-12-14 criteria provided, single submitter clinical testing The p.R1423W variant (also known as c.4267C>T), located in coding exon 22 of the ATP7A gene, results from a C to T substitution at nucleotide position 4267. The arginine at codon 1423 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species, and tryptophan is the reference amino acid in other vertebrate species. Based on data from gnomAD, the T allele has an overall frequency of 0.0034% (7/205335) total alleles studied, with 3 hemizygotes observed. The highest observed frequency was 0.013% (2/14850) of East Asian alleles. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001277502 SCV001464461 likely benign Menkes kinky-hair syndrome 2020-10-27 no assertion criteria provided clinical testing

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