ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8060C>T (p.Thr2687Met)

gnomAD frequency: 0.00047  dbSNP: rs148642998
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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 RCV002968545 SCV003681185 uncertain significance Inborn genetic diseases 2024-10-29 criteria provided, single submitter clinical testing The c.8060C>T (p.T2687M) alteration is located in exon 22 (coding exon 22) of the PKD1 gene. This alteration results from a C to T substitution at nucleotide position 8060, causing the threonine (T) at amino acid position 2687 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004794618 SCV005414787 uncertain significance not provided 2024-05-21 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
PreventionGenetics, part of Exact Sciences RCV003963753 SCV004786375 likely benign PKD1-related disorder 2022-06-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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