ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.10921G>A (p.Ala3641Thr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004657307 SCV005153332 uncertain significance Inborn genetic diseases 2024-06-03 criteria provided, single submitter clinical testing The c.10918G>A (p.A3640T) alteration is located in exon 37 (coding exon 37) of the PKD1 gene. This alteration results from a G to A substitution at nucleotide position 10918, causing the alanine (A) at amino acid position 3640 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005015224 SCV005640963 uncertain significance Polycystic kidney disease, adult type 2024-05-30 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005015224 SCV006058174 uncertain significance Polycystic kidney disease, adult type 2024-11-29 criteria provided, single submitter clinical testing

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