ClinVar Miner

Submissions for variant NM_031308.4(EPPK1):c.6620C>T (p.Thr2207Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004907891 SCV005572712 uncertain significance not specified 2024-07-02 criteria provided, single submitter clinical testing The c.6620C>T (p.T2207M) alteration is located in exon 1 (coding exon 1) of the EPPK1 gene. This alteration results from a C to T substitution at nucleotide position 6620, causing the threonine (T) at amino acid position 2207 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003956999 SCV004770485 likely benign EPPK1-related disorder 2021-07-15 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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