ClinVar Miner

Submissions for variant NM_016042.4(EXOSC3):c.785C>T (p.Ser262Leu)

dbSNP: rs767942736
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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 RCV000818706 SCV000959333 uncertain significance Pontocerebellar hypoplasia type 1B 2022-06-04 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 262 of the EXOSC3 protein (p.Ser262Leu). This variant is present in population databases (rs767942736, gnomAD 0.03%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with EXOSC3-related conditions. ClinVar contains an entry for this variant (Variation ID: 661315). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV002535481 SCV003614887 uncertain significance Inborn genetic diseases 2022-02-10 criteria provided, single submitter clinical testing The c.785C>T (p.S262L) alteration is located in exon 4 (coding exon 4) of the EXOSC3 gene. This alteration results from a C to T substitution at nucleotide position 785, causing the serine (S) at amino acid position 262 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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