ClinVar Miner

Submissions for variant NM_015148.4(PASK):c.2054C>G (p.Thr685Arg)

gnomAD frequency: 0.00093  dbSNP: rs139743003
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000968934 SCV001116418 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029936 SCV003556335 uncertain significance not specified 2022-04-08 criteria provided, single submitter clinical testing The c.2054C>G (p.T685R) alteration is located in exon 10 (coding exon 9) of the PASK gene. This alteration results from a C to G substitution at nucleotide position 2054, causing the threonine (T) at amino acid position 685 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000968934 SCV005261972 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003905962 SCV004720158 likely benign PASK-related disorder 2021-02-23 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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