ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.640C>A (p.Pro214Thr)

gnomAD frequency: 0.00003  dbSNP: rs776101722
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813478 SCV000953839 likely benign Danon disease 2024-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV003166323 SCV003913014 uncertain significance Cardiovascular phenotype 2022-12-08 criteria provided, single submitter clinical testing The p.P214T variant (also known as c.640C>A), located in coding exon 5 of the LAMP2 gene, results from a C to A substitution at nucleotide position 640. The proline at codon 214 is replaced by threonine, an amino acid with highly similar properties. Based on data from gnomAD, the A allele has an overall frequency of 0.0027% (5/183495) total alleles studied, with 1 hemizygote(s) observed. The highest observed frequency was 0.0182% (5/27431) of Latino alleles. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000813478 SCV003920144 uncertain significance Danon disease 2021-03-30 criteria provided, single submitter clinical testing LAMP2 NM_002294.2 exon 5 p.Pro214Thr (c.640C>A): This variant has not been reported in the literature but is present in 5/26579 Latino alleles, including 1 hemizygote, in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs776101722). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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