ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.4081G>A (p.Asp1361Asn) (rs58695352)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483462 SCV000567738 likely pathogenic not provided 2018-08-28 criteria provided, single submitter clinical testing The D1361N variant has been published previously in association with pseudoxanthoma elasticum (Le Saux et al., 2001). The variant is observed in 2/30276 (0.0066%) alleles from individuals of South Asian background in large population cohorts (Lek et al., 2016). D1361N is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. The D1361 residue has been shown to align with the nucleotide binding domain/transmembrane domain interface (Kelly et al., 2007). In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. In summary, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
PXE International RCV000499266 SCV000589108 pathogenic Pseudoxanthoma elasticum criteria provided, single submitter research

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