ClinVar Miner

Submissions for variant NM_194318.4(B3GLCT):c.1010G>A (p.Arg337His)

gnomAD frequency: 0.00022  dbSNP: rs199794968
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418176 SCV000526934 uncertain significance not provided 2016-04-12 criteria provided, single submitter clinical testing The R337H variant in the B3GALTL gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R337H variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R337H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret R337H as a variant of uncertain significance.
Invitae RCV001084046 SCV001096625 benign Peters plus syndrome 2023-01-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001084046 SCV001267933 uncertain significance Peters plus syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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