ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.1874C>T (p.Ser625Leu)

gnomAD frequency: 0.00051  dbSNP: rs201963032
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000914382 SCV001059556 likely benign Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2023-12-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818850 SCV002065276 uncertain significance not specified 2021-05-03 criteria provided, single submitter clinical testing DNA sequence analysis of the PARN gene demonstrated a sequence change, c.1874C>T, in exon 24 that results in an amino acid change, p.Ser625Leu. This sequence change has been described in gnomAD with a frequency of 0.19% in the African/African-American sub-population (dbSNP rs201963032). The p.Ser625Leu change affects a poorly conserved amino acid residue located in a domain of the PARN protein that is not known to be functional. The p.Ser625Leu substitution appears to be benign using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). This sequence change does not appear to have been previously described in patients with PARN-related disorders. Due to the lack of sufficient evidences, the clinical significance of the p.Ser625Leu change remains unknown at this time.
Ambry Genetics RCV003169295 SCV003870093 likely benign Inborn genetic diseases 2023-02-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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