ClinVar Miner

Submissions for variant NM_020655.4(JPH3):c.955C>T (p.Arg319Trp)

dbSNP: rs148131421
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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 RCV000662143 SCV000784486 uncertain significance Huntington disease-like 2 2018-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026067 SCV004889192 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.955C>T (p.R319W) alteration is located in exon 2 (coding exon 2) of the JPH3 gene. This alteration results from a C to T substitution at nucleotide position 955, causing the arginine (R) at amino acid position 319 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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