ClinVar Miner

Submissions for variant NM_005768.6(LPCAT3):c.403G>A (p.Gly135Ser)

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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 RCV004936499 SCV005608999 uncertain significance not specified 2024-09-06 criteria provided, single submitter clinical testing The c.403G>A (p.G135S) alteration is located in exon 4 (coding exon 4) of the LPCAT3 gene. This alteration results from a G to A substitution at nucleotide position 403, causing the glycine (G) at amino acid position 135 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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