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

gnomAD frequency: 0.00013  dbSNP: rs17135779

Total submissions: 2

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=
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	RCV000757653	SCV002051650	uncertain significance	not provided	2021-03-17	criteria provided, single submitter	clinical testing	No ACMG evidence could be applied applied