ClinVar Miner

Submissions for variant NM_004744.5(LRAT):c.298G>A (p.Gly100Ser)

dbSNP: rs1035206645
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987483 SCV001136782 uncertain significance Leber congenital amaurosis 1 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549681 SCV002972762 pathogenic not provided 2023-06-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Gly100 amino acid residue in LRAT. Other variant(s) that disrupt this residue have been observed in individuals with LRAT-related conditions (PMID: 25472526), which suggests that this may be a clinically significant amino acid residue. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 802097). This missense change has been observed in individuals with LRAT-related conditions (PMID: 32865313). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 100 of the LRAT protein (p.Gly100Ser).

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