ClinVar Miner

Submissions for variant NM_018291.5(FGGY):c.413G>T (p.Gly138Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004623325 SCV005116321 uncertain significance not specified 2024-04-01 criteria provided, single submitter clinical testing The c.413G>T (p.G138V) alteration is located in exon 4 (coding exon 3) of the FGGY gene. This alteration results from a G to T substitution at nucleotide position 413, causing the glycine (G) at amino acid position 138 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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