ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1574C>G (p.Ala525Gly)

gnomAD frequency: 0.00001  dbSNP: rs368355216
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058784 SCV001223377 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402423 SCV002709443 uncertain significance Inborn genetic diseases 2022-02-28 criteria provided, single submitter clinical testing The p.A525G variant (also known as c.1574C>G), located in coding exon 5 of the ATP7A gene, results from a C to G substitution at nucleotide position 1574. The alanine at codon 525 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001274231 SCV001458104 uncertain significance Menkes kinky-hair syndrome 2019-12-31 no assertion criteria provided clinical testing

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