ClinVar Miner

Submissions for variant NM_152599.4(MFSD6L):c.1505G>C (p.Ser502Thr)

gnomAD frequency: 0.00003  dbSNP: rs140422131
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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 RCV004242410 SCV003757819 uncertain significance not specified 2022-10-04 criteria provided, single submitter clinical testing The c.1505G>C (p.S502T) alteration is located in exon 1 (coding exon 1) of the MFSD6L gene. This alteration results from a G to C substitution at nucleotide position 1505, causing the serine (S) at amino acid position 502 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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