ClinVar Miner

Submissions for variant NM_006097.5(MYL9):c.184+2_184+10del

dbSNP: rs1569529545
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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 RCV001009609 SCV001164303 uncertain significance Visceral myopathy 1 2020-02-26 criteria provided, single submitter clinical testing This intronic variant, NM_006097.4:c.184+2_184+10del, was identified in trans with a heterozygous deletion of exon 4 in an individual with a clinical diagnosis of MMIH syndrome: bilateral hydronephrosis, megacystis, congenital bilateral mydriasis, lack of urinary bladder peristalsis, and intestinal pseudo-obstruction. This intronic variant alters the highly conserved splice donor site for exon 2 of this transcript and is predicted by five splice site prediction tools queried to abolish canonical splice donor activity. This variant is expected to result in altered function of the MYL9 gene product as a result of aberrant splicing. This variant has been observed at a frequency of less than 0.01% (2/245706 alleles) across the entire Broad data set (individuals without severe childhood onset disease).
OMIM RCV001523898 SCV001733632 pathogenic Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 2021-06-16 no assertion criteria provided literature only

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