ClinVar Miner

Submissions for variant NM_001330360.2(POLA1):c.1573A>G (p.Met525Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002885878 SCV003243311 benign not provided 2023-10-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003994469 SCV004813125 uncertain significance not specified 2024-02-26 criteria provided, single submitter clinical testing Variant summary: POLA1 c.1555A>G (p.Met519Val) results in a conservative amino acid change located in the DNA-directed DNA polymerase, family B, exonuclease domain (IPR006133) of the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 7.7e-05 in 182840 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in POLA1 causing X-Linked Intellectual Disability, Van Esch Type, allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1555A>G in individuals affected with X-Linked Intellectual Disability, Van Esch Type and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 2037584). Based on the evidence outlined above, the variant was classified as uncertain significance.

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