ClinVar Miner

Submissions for variant NM_014014.5(SNRNP200):c.737C>T (p.Ala246Val)

gnomAD frequency: 0.00001  dbSNP: rs762289712
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074889 SCV001240493 uncertain significance Retinal dystrophy 2019-08-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002554733 SCV002974577 uncertain significance not provided 2022-03-20 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 866676). This variant has not been reported in the literature in individuals affected with SNRNP200-related conditions. This variant is present in population databases (rs762289712, gnomAD 0.002%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 246 of the SNRNP200 protein (p.Ala246Val).
Ambry Genetics RCV004031185 SCV004954399 uncertain significance Inborn genetic diseases 2023-12-14 criteria provided, single submitter clinical testing The c.737C>T (p.A246V) alteration is located in exon 7 (coding exon 7) of the SNRNP200 gene. This alteration results from a C to T substitution at nucleotide position 737, causing the alanine (A) at amino acid position 246 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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