ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.3358A>C (p.Ser1120Arg)

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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 RCV003786914 SCV004574052 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004968458 SCV005519987 uncertain significance Inborn genetic diseases 2024-10-01 criteria provided, single submitter clinical testing The c.3358A>C (p.S1120R) alteration is located in exon 17 (coding exon 16) of the ATP7A gene. This alteration results from a A to C substitution at nucleotide position 3358, causing the serine (S) at amino acid position 1120 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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