ClinVar Miner

Submissions for variant NM_018294.6(CWF19L1):c.942del (p.Pro315fs)

dbSNP: rs749679347
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994492 SCV001148063 likely pathogenic not provided 2019-06-01 criteria provided, single submitter clinical testing
New York Genome Center RCV001291710 SCV001480295 likely pathogenic Autosomal recessive spinocerebellar ataxia 17 2019-09-27 criteria provided, single submitter clinical testing The c.942del, p.Pro315GlnfsTer68,a novel frameshift variant identified in CWF19L1 has not been reported in the available literature. This variant is also not reported in gnomAD database indicating this is a rare allele. The detected variant causes a 1 bp deletion at amino acid 315, which is predicted to cause a frameshift and premature stop further downstream and in silico tool predicts the variant is expected to result in an absent protein product through nonsense-mediated mRNAdecay [PMID: 24681721]. Based on the available evidence, the c.942del, p.Pro315GlnfsTer68 variant in the CWF19L1 gene is classified as likely pathogenic.

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