ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9067A>G (p.Met3023Val) (rs17135779)

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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 RCV000757653 SCV000885954 uncertain significance not provided 2018-03-19 criteria provided, single submitter clinical testing The PKD1 c.9067A>G; p.Met3023Val variant (rs17135779), to our knowledge, is not reported in the medical literature or in gene-specific databases but is observed in the general population at an overall frequency of 0.006% (15/258936 alleles) in the Genome Aggregation Database. Another variant at this codon (c.9068T>A; p.Met3023Lys) is reported in the ADPKD database as a likely neutral variant (see link to ADPKD database). The methionine at codon 3023 is moderately conserved but computational algorithms (SIFT, PolyPhen2) predict that this variant is tolerated. Due to limited information regarding the c.9067A>G variant, its clinical significance cannot be determined with certainty. References: ADPKD database: http://pkdb.mayo.edu/cgi-bin/v2_display_mutations.cgi?apkd_mode=PROD&username=

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