ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1721C>T (p.Thr574Met)

gnomAD frequency: 0.00005  dbSNP: rs782076879
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444044 SCV000532003 uncertain significance not specified 2016-09-28 criteria provided, single submitter clinical testing The T574M variant in the ATP7A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The T574M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret T574M as a variant of uncertain significance.
Mayo Clinic Laboratories, Mayo Clinic RCV001508048 SCV001713949 uncertain significance not provided 2021-03-16 criteria provided, single submitter clinical testing
Invitae RCV001861618 SCV002148686 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2023-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402192 SCV002714192 uncertain significance Inborn genetic diseases 2022-02-10 criteria provided, single submitter clinical testing The c.1721C>T (p.T574M) alteration is located in exon 7 (coding exon 6) of the ATP7A gene. This alteration results from a C to T substitution at nucleotide position 1721, causing the threonine (T) at amino acid position 574 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001833557 SCV002089059 uncertain significance Menkes kinky-hair syndrome 2019-10-28 no assertion criteria provided clinical testing

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