ClinVar Miner

Submissions for variant NM_001040616.3(LINS1):c.304del (p.Arg102fs)

dbSNP: rs760477654
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734583 SCV000862736 uncertain significance not provided 2018-08-02 criteria provided, single submitter clinical testing
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002470966 SCV002767687 pathogenic Intellectual disability, autosomal recessive 27 2020-05-26 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as pathogenic. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease for this gene. (N) 0106 - This gene is known to be associated with autosomal recessive disease. (N) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (exon 2 of 7). (P) 0251 - Variant is heterozygous. (N) 0304 - Variant is present in gnomAD <0.01 for a recessive condition (3 heterozygotes, 0 homozygotes). (P) 0702 - Comparable variants also predicted to result in an NMD predicted variant, have strong previous evidence for pathogenicity (ClinVar, Decipher). (P) 0804 - Variant has previously been described as a variant of uncertain significance but with no supporting evidence (ClinVar). (N) 0905 - No segregation evidence has been identified for this variant. (N) 1007 - No published functional evidence has been identified for this variant. (N) 1207 - Parental origin of the variant is unresolved, but this variant is NOT paternally inherited. (N) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign
GeneDx RCV000734583 SCV005369341 pathogenic not provided 2024-04-06 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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