ClinVar Miner

Submissions for variant NM_017436.7(A4GALT):c.752C>T (p.Pro251Leu)

gnomAD frequency: 0.00005  dbSNP: rs28940571
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003546450 SCV004261261 uncertain significance not provided 2023-12-09 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 251 of the A4GALT protein (p.Pro251Leu). This variant is present in population databases (rs28940571, gnomAD 0.05%). This missense change has been observed in individual(s) with clinical features of A4GALT-related disorders (PMID: 10993874, 15142124, 20053607, 23927681). ClinVar contains an entry for this variant (Variation ID: 2693). 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. Experimental studies have shown that this missense change affects A4GALT function (PMID: 10993874). 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.
OMIM RCV000002812 SCV000022970 affects p phenotype 2002-03-29 no assertion criteria provided literature only

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