ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2042C>T (p.Ala681Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004961904 SCV005468800 uncertain significance Inborn genetic diseases 2024-09-26 criteria provided, single submitter clinical testing The c.2042C>T (p.A681V) alteration is located in exon 10 (coding exon 10) of the PKD1 gene. This alteration results from a C to T substitution at nucleotide position 2042, causing the alanine (A) at amino acid position 681 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005017301 SCV005643161 likely benign Polycystic kidney disease, adult type 2024-05-17 criteria provided, single submitter clinical testing

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