ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.4352G>A (p.Gly1451Asp)

gnomAD frequency: 0.00002  dbSNP: rs782232632
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001475026 SCV001679207 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-08-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329571 SCV002632214 uncertain significance Inborn genetic diseases 2022-03-20 criteria provided, single submitter clinical testing The p.G1451D variant (also known as c.4352G>A), located in coding exon 22 of the ATP7A gene, results from a G to A substitution at nucleotide position 4352. The glycine at codon 1451 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005232345 SCV005877173 uncertain significance not provided 2024-10-03 criteria provided, single submitter clinical testing The ATP7A c.4352G>A; p.Gly1451Asp variant (rs782232632), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 1138621). This variant is found in the non-Finnish European population with an allele frequency of 0.004% (4/92,707 alleles, including 2 hemizygotes) in the Genome Aggregation Database (v2.1.1). Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.292). Due to limited information, the clinical significance of this variant is uncertain at this time.

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