ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.3533A>G (p.Tyr1178Cys)

gnomAD frequency: 0.00002  dbSNP: rs1557238006
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002090753 SCV002372720 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2023-09-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002993470 SCV003583627 uncertain significance Inborn genetic diseases 2021-09-15 criteria provided, single submitter clinical testing The c.3533A>G (p.Y1178C) alteration is located in exon 18 (coding exon 17) of the ATP7A gene. This alteration results from a A to G substitution at nucleotide position 3533, causing the tyrosine (Y) at amino acid position 1178 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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