ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe)

gnomAD frequency: 0.00001  dbSNP: rs1331470313
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804376 SCV000944285 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000804376 SCV002789253 uncertain significance Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2021-11-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003117594 SCV003799299 uncertain significance not provided 2022-04-05 criteria provided, single submitter clinical testing The ATP7A c.1558C>T; p.Leu520Phe variant (rs1331470313), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 649439). The variant is reported in the non-Finnish European population with an allele frequency of 0.002% (2/81,900 alleles including 1 hemizygote) in the Genome Aggregation Database. The leucine at codon 520 is moderately conserved and computational analyses predict that this variant is deleterious (REVEL: 0.702). However, given the lack of clinical and functional data, the significance of the p.Leu520Phe variant is uncertain at this time.
Natera, Inc. RCV001830742 SCV002089054 uncertain significance Menkes kinky-hair syndrome 2021-03-23 no assertion criteria provided clinical testing

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