ClinVar Miner

Submissions for variant NM_001041.4(SI):c.355A>T (p.Met119Leu)

gnomAD frequency: 0.00008  dbSNP: rs746151218
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002117399 SCV002407574 likely benign not provided 2024-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV003025406 SCV003743302 uncertain significance Inborn genetic diseases 2021-07-28 criteria provided, single submitter clinical testing The c.355A>T (p.M119L) alteration is located in exon 4 (coding exon 3) of the SI gene. This alteration results from a A to T substitution at nucleotide position 355, causing the methionine (M) at amino acid position 119 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005032165 SCV005657460 uncertain significance Sucrase-isomaltase deficiency 2024-02-13 criteria provided, single submitter clinical testing

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