ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.7C>A (p.Leu3Ile)

gnomAD frequency: 0.00025  dbSNP: rs142163063
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726300 SCV000243396 uncertain significance not provided 2024-12-26 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Eurofins Ntd Llc (ga) RCV000726300 SCV000343531 uncertain significance not provided 2016-08-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000726300 SCV000628918 likely benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314771 SCV000849027 uncertain significance Inborn genetic diseases 2022-08-22 criteria provided, single submitter clinical testing The c.7C>A (p.L3I) alteration is located in exon 1 (coding exon 1) of the TPP1 gene. This alteration results from a C to A substitution at nucleotide position 7, causing the leucine (L) at amino acid position 3 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224212 SCV003920587 uncertain significance Neuronal ceroid lipofuscinosis 2; Autosomal recessive spinocerebellar ataxia 7 2022-12-29 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.08% [13/15282]; https://gnomad.broadinstitute.org/variant/11-6619394-G-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID: 207558). Evolutionary conservation and computational prediction tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Mayo Clinic Laboratories, Mayo Clinic RCV000726300 SCV005412286 uncertain significance not provided 2024-01-16 criteria provided, single submitter clinical testing BP4
Natera, Inc. RCV001274548 SCV001458800 uncertain significance Neuronal ceroid lipofuscinosis 2 2020-01-24 no assertion criteria provided clinical testing

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