ClinVar Miner

Submissions for variant NM_012254.3(SLC27A5):c.1229G>A (p.Gly410Glu)

gnomAD frequency: 0.00173  dbSNP: rs149709084
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000290829 SCV000343591 likely benign not specified 2017-01-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002519319 SCV003252137 likely benign not provided 2025-01-07 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002519319 SCV004225445 uncertain significance not provided 2023-05-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977807 SCV004790286 likely benign SLC27A5-related disorder 2022-02-24 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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