ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7457C>T (p.Ala2486Val)

dbSNP: rs547751652
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003391415 SCV004110638 uncertain significance PKD1-related disorder 2023-04-21 criteria provided, single submitter clinical testing The PKD1 c.7457C>T variant is predicted to result in the amino acid substitution p.Ala2486Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.069% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-2156431-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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