ClinVar Miner

Submissions for variant NM_018043.7(ANO1):c.320C>T (p.Ser107Leu)

gnomAD frequency: 0.00001  dbSNP: rs764375332
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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 RCV004424425 SCV004907851 uncertain significance not specified 2023-12-07 criteria provided, single submitter clinical testing The c.320C>T (p.S107L) alteration is located in exon 2 (coding exon 2) of the ANO1 gene. This alteration results from a C to T substitution at nucleotide position 320, causing the serine (S) at amino acid position 107 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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