ClinVar Miner

Submissions for variant NM_130468.4(CHST14):c.778T>G (p.Phe260Val)

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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 RCV004995160 SCV005557173 uncertain significance Cardiovascular phenotype 2024-07-27 criteria provided, single submitter clinical testing The c.778T>G (p.F260V) alteration is located in exon 1 (coding exon 1) of the CHST14 gene. This alteration results from a T to G substitution at nucleotide position 778, causing the phenylalanine (F) at amino acid position 260 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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