ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4756G>A (p.Asp1586Asn) (rs770968964)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756533 SCV000884368 uncertain significance not provided 2018-06-26 criteria provided, single submitter clinical testing The PKD1 c.4756G>A; p.Asp1586Asn variant (rs770968964), to our knowledge, is not reported in the medical literature or gene specific databases, and is only observed on 1 allele in Genome Aggregation Database. The aspartic acid at codon 1586 is highly conserved, but computational analyses (SIFT: tolerated, PolyPhen-2: probably damaging) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Asp1586Asn variant is uncertain at this time.

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