ClinVar Miner

Submissions for variant NM_130468.4(CHST14):c.448C>T (p.Leu150Phe)

dbSNP: rs2141570771
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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 RCV003187674 SCV003858797 uncertain significance Cardiovascular phenotype 2022-12-18 criteria provided, single submitter clinical testing The p.L150F variant (also known as c.448C>T), located in coding exon 1 of the CHST14 gene, results from a C to T substitution at nucleotide position 448. The leucine at codon 150 is replaced by phenylalanine, 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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