ClinVar Miner

Submissions for variant NM_194318.4(B3GLCT):c.1135G>A (p.Gly379Ser)

dbSNP: rs375168040
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001062297 SCV001227087 uncertain significance Peters plus syndrome 2019-12-20 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with B3GLCT-related disease. This variant is present in population databases (rs375168040, ExAC 0.03%). This sequence change replaces glycine with serine at codon 379 of the B3GLCT protein (p.Gly379Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine.
Ambry Genetics RCV002553920 SCV003526613 uncertain significance Inborn genetic diseases 2021-05-26 criteria provided, single submitter clinical testing The c.1135G>A (p.G379S) alteration is located in exon 13 (coding exon 13) of the B3GLCT gene. This alteration results from a G to A substitution at nucleotide position 1135, causing the glycine (G) at amino acid position 379 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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