ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1857C>G (p.Ile619Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002413112 SCV002722120 uncertain significance Inborn genetic diseases 2021-12-14 criteria provided, single submitter clinical testing The p.I619M variant (also known as c.1857C>G), located in coding exon 6 of the ATP7A gene, results from a C to G substitution at nucleotide position 1857. The isoleucine at codon 619 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
Invitae RCV003097300 SCV003448581 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2022-06-22 criteria provided, single submitter clinical testing

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