ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.239C>T (p.Pro80Leu)

gnomAD frequency: 0.00002  dbSNP: rs782602356
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318874 SCV000851885 benign Inborn genetic diseases 2016-09-29 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV001514642 SCV001722538 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2025-01-20 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279500 SCV002566267 likely benign Ehlers-Danlos syndrome 2021-12-01 criteria provided, single submitter clinical testing

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