ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.2576A>G (p.Asp859Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics,CHU Rennes RCV001194652 SCV001337652 pathogenic Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 2020-06-14 no assertion criteria provided clinical testing The affected amino acid is highly conserved across species. It is located in the actuator domain of the protein, next to a potential p97/VCP binding site (24). The pathogenic variant was not found in several databases (GnomAD, Ensembl, ClinVar, dbSNP). It was predicted deleterious by four softwares (SIFT, Polyphen, UMDP, GERP). Familial segregation showed that the pathogenic variant was not present in the asymptomatic sister of the patient, but as both of his parents were dead familial analyses could not be pursued.2015 ACMG criteria for variant classification are : PM1, PM2, PM3, PM6, PP3, PP4. Classification of the variant is 4 : likely pathogenic.

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