ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.281C>T (p.Ala94Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002441801 SCV002746646 uncertain significance Inborn genetic diseases 2022-04-07 criteria provided, single submitter clinical testing The p.A94V variant (also known as c.281C>T), located in coding exon 2 of the ATP7A gene, results from a C to T substitution at nucleotide position 281. The alanine at codon 94 is replaced by valine, an amino acid with similar properties. Based on data from gnomAD, the T allele has an overall frequency of 0.002% (3/183165) total alleles studied, with 1 hemizygote observed. The highest observed frequency was 0.007% (1/13861) of East Asian alleles. This amino acid position is not well 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.
Invitae RCV003102753 SCV003250693 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2023-10-22 criteria provided, single submitter clinical testing

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