ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.4363C>T (p.Arg1455Trp)

gnomAD frequency: 0.00001  dbSNP: rs1457236338
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001907023 SCV002181193 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-07-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003490929 SCV004234582 uncertain significance not provided 2023-04-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004042729 SCV004914046 uncertain significance Inborn genetic diseases 2023-11-28 criteria provided, single submitter clinical testing The c.4363C>T (p.R1455W) alteration is located in exon 23 (coding exon 22) of the ATP7A gene. This alteration results from a C to T substitution at nucleotide position 4363, causing the arginine (R) at amino acid position 1455 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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