ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4122C>G (p.Ile1374Met)

gnomAD frequency: 0.00003  dbSNP: rs757456211
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001376139 SCV001573145 likely benign Polycystic kidney disease, adult type 2021-04-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003416294 SCV004107372 uncertain significance PKD1-related disorder 2022-11-26 criteria provided, single submitter clinical testing The PKD1 c.4122C>G variant is predicted to result in the amino acid substitution p.Ile1374Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.065% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-2161046-G-C). This variant is interpreted as likely benign.

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