ClinVar Miner

Submissions for variant NM_005094.4(SLC27A4):c.167G>T (p.Gly56Val)

gnomAD frequency: 0.00066  dbSNP: rs140481562
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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 RCV000914659 SCV001059842 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004669171 SCV005164555 uncertain significance Inborn genetic diseases 2024-05-09 criteria provided, single submitter clinical testing The c.167G>T (p.G56V) alteration is located in exon 3 (coding exon 2) of the SLC27A4 gene. This alteration results from a G to T substitution at nucleotide position 167, causing the glycine (G) at amino acid position 56 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000914659 SCV005318404 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003913053 SCV004735821 likely benign SLC27A4-related disorder 2020-03-23 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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