ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3175G>T (p.Asp1059Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004961943 SCV005475101 uncertain significance Inborn genetic diseases 2024-08-11 criteria provided, single submitter clinical testing The c.3175G>T (p.D1059Y) alteration is located in exon 14 (coding exon 14) of the PKD1 gene. This alteration results from a G to T substitution at nucleotide position 3175, causing the aspartic acid (D) at amino acid position 1059 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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