ClinVar Miner

Submissions for variant NM_001114748.2(TMEM240):c.343G>A (p.Val115Met)

gnomAD frequency: 0.00003  dbSNP: rs1045410944
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626226 SCV000746872 benign Spinocerebellar ataxia type 21 2020-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002529783 SCV003721160 uncertain significance Inborn genetic diseases 2022-12-15 criteria provided, single submitter clinical testing The c.343G>A (p.V115M) alteration is located in exon 3 (coding exon 3) of the TMEM240 gene. This alteration results from a G to A substitution at nucleotide position 343, causing the valine (V) at amino acid position 115 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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