ClinVar Miner

Submissions for variant NM_004998.4(MYO1E):c.3100A>G (p.Ser1034Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005003119 SCV005631192 uncertain significance Focal segmental glomerulosclerosis 6 2024-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV005377684 SCV006038718 uncertain significance Inborn genetic diseases 2025-01-17 criteria provided, single submitter clinical testing The c.3100A>G (p.S1034G) alteration is located in exon 27 (coding exon 27) of the MYO1E gene. This alteration results from a A to G substitution at nucleotide position 3100, causing the serine (S) at amino acid position 1034 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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