ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1907G>A (p.Arg636Gln)

gnomAD frequency: 0.00001  dbSNP: rs1557234412
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001944995 SCV002180791 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002407069 SCV002719934 uncertain significance Inborn genetic diseases 2022-07-25 criteria provided, single submitter clinical testing The p.R636Q variant (also known as c.1907G>A), located in coding exon 7 of the ATP7A gene, results from a G to A substitution at nucleotide position 1907. The arginine at codon 636 is replaced by glutamine, an amino acid with highly similar properties. Based on data from gnomAD, the X allele has an overall frequency of 0.0005% (1/183316) total alleles studied, with 0 hemizygote(s) observed. The highest observed frequency was 0.0062% (1/16008) of Finnish alleles. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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