ClinVar Miner

Submissions for variant NM_152599.4(MFSD6L):c.727C>T (p.Arg243Trp)

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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 RCV005380674 SCV006028966 uncertain significance not specified 2025-01-18 criteria provided, single submitter clinical testing The c.727C>T (p.R243W) alteration is located in exon 1 (coding exon 1) of the MFSD6L gene. This alteration results from a C to T substitution at nucleotide position 727, causing the arginine (R) at amino acid position 243 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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