ClinVar Miner

Submissions for variant NM_003097.6(SNRPN):c.-274G>A

gnomAD frequency: 0.00014  dbSNP: rs142583293
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000398462 SCV000390112 uncertain significance Autism spectrum disorder 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021629 SCV003869732 uncertain significance not specified 2023-02-28 criteria provided, single submitter clinical testing The c.131G>A (p.R44H) alteration is located in exon 3 (coding exon 3) of the SNURF gene. This alteration results from a G to A substitution at nucleotide position 131, causing the arginine (R) at amino acid position 44 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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