ClinVar Miner

Submissions for variant NM_130468.4(CHST14):c.875A>C (p.His292Pro)

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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 RCV004995161 SCV005557174 uncertain significance Cardiovascular phenotype 2024-08-28 criteria provided, single submitter clinical testing The c.875A>C (p.H292P) alteration is located in exon 1 (coding exon 1) of the CHST14 gene. This alteration results from a A to C substitution at nucleotide position 875, causing the histidine (H) at amino acid position 292 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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