ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn) (rs141274774)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436538 SCV000520767 uncertain significance not specified 2016-12-16 criteria provided, single submitter clinical testing The S1352N variant in the PKD1 gene has been reported previously as in an individual with autosomal dominant polycystic kidney disease who was also heterozygous for two other missense variants in PKD1 (Eisenberger et al., 2015); no additional clinical or family history was provided for this individual. Although not present in the homozygous state, the NHLBI ESP Exome Sequencing Project reports S1352N was observed with a frequency of 0.13% (11/8592 alleles) from individuals of European American background, indicating it may be a rare (benign) variant in this population. The S1352N variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Given the available evidence, we interpret S1352N as a variant of uncertain significance.
Athena Diagnostics Inc RCV000992579 SCV001144980 likely benign not provided 2018-12-07 criteria provided, single submitter clinical testing

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