ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.844A>G (p.Ile282Val)

gnomAD frequency: 0.00003  dbSNP: rs782237314
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703372 SCV000832269 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-01-20 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508045 SCV001713946 uncertain significance not provided 2020-08-05 criteria provided, single submitter clinical testing
GeneDx RCV001508045 SCV001792429 likely benign not provided 2019-08-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV003380695 SCV004090828 uncertain significance Inborn genetic diseases 2023-08-29 criteria provided, single submitter clinical testing The c.844A>G (p.I282V) alteration is located in exon 4 (coding exon 3) of the ATP7A gene. This alteration results from a A to G substitution at nucleotide position 844, causing the isoleucine (I) at amino acid position 282 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV001508045 SCV004184922 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing ATP7A: BP4

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