ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly) (rs782196306)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426016 SCV000535021 uncertain significance not provided 2016-12-20 criteria provided, single submitter clinical testing The R344G variant of uncertain significance in the ATP7A gene has been reported as a novel variant in a Japaneseindividual with cancer; study authors hypothesized that genetic variants in ATP7A and ATP7B may influenceefficacy/toxicity of platinum drugs used for cancer treatment (Fukushima-Uesaka et al., 2009). R344G was notobserved in approximately 6,500 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, but was observed in 0.15% of alleles from individuals of East Asian ancestry in the ExomeAggregation Consortium (ExAC). The R344G variant is a non-conservative amino acid substitution, which is likelyto impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However,this substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as towhether or not the variant is damaging to the protein structure/function.Therefore, based on the currently available information, it is unclear whether this X-linked variant is pathogenic orrare benign. This result cannot be interpreted for diagnosis or used for family member screening at this time.
Invitae RCV001089330 SCV001075352 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 2019-12-31 criteria provided, single submitter clinical testing

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