ClinVar Miner

Submissions for variant NM_130468.4(CHST14):c.183G>C (p.Glu61Asp)

dbSNP: rs1595869218
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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 RCV002412825 SCV002717024 uncertain significance Cardiovascular phenotype 2022-05-24 criteria provided, single submitter clinical testing The p.E61D variant (also known as c.183G>C), located in coding exon 1 of the CHST14 gene, results from a G to C substitution at nucleotide position 183. The glutamic acid at codon 61 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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