ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9233T>A (p.Met3078Lys)

dbSNP: rs879544330
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003219008 SCV003915173 uncertain significance not provided 2022-10-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV005382614 SCV006046175 uncertain significance Inborn genetic diseases 2025-01-21 criteria provided, single submitter clinical testing The c.9233T>A (p.M3078K) alteration is located in exon 26 (coding exon 26) of the PKD1 gene. This alteration results from a T to A substitution at nucleotide position 9233, causing the methionine (M) at amino acid position 3078 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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