ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1385C>T (p.Pro462Leu)

gnomAD frequency: 0.00009  dbSNP: rs201999500
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000640895 SCV000762499 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2023-12-28 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508046 SCV001713947 uncertain significance not provided 2020-06-12 criteria provided, single submitter clinical testing
GeneDx RCV001508046 SCV002496245 uncertain significance not provided 2022-03-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 533673; ClinVar); Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002388073 SCV002699029 uncertain significance Inborn genetic diseases 2022-01-13 criteria provided, single submitter clinical testing The p.P462L variant (also known as c.1385C>T), located in coding exon 4 of the ATP7A gene, results from a C to T substitution at nucleotide position 1385. The proline at codon 462 is replaced by leucine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and leucine is the reference amino acid in other vertebrate species. 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.
CeGaT Center for Human Genetics Tuebingen RCV001508046 SCV004811669 uncertain significance not provided 2024-03-01 criteria provided, single submitter clinical testing

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