ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.391C>T (p.Pro131Ser)

gnomAD frequency: 0.00001  dbSNP: rs1057518769
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415045 SCV000492547 uncertain significance Dyssynergia 2015-12-14 criteria provided, single submitter clinical testing
Invitae RCV001240588 SCV001413550 uncertain significance Hereditary sensory neuropathy-deafness-dementia syndrome 2023-08-10 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 131 of the DNMT1 protein (p.Pro131Ser). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with DNMT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 373918). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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