ClinVar Miner

Submissions for variant NM_015311.3(OBSL1):c.2056G>A (p.Val686Ile)

gnomAD frequency: 0.00006  dbSNP: rs202040862
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733435 SCV000861505 uncertain significance not provided 2018-06-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000733435 SCV001570231 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 686 of the OBSL1 protein (p.Val686Ile). This variant is present in population databases (rs202040862, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with OBSL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 597350). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002535330 SCV003564318 uncertain significance Inborn genetic diseases 2022-04-28 criteria provided, single submitter clinical testing The c.2056G>A (p.V686I) alteration is located in exon 5 (coding exon 5) of the OBSL1 gene. This alteration results from a G to A substitution at nucleotide position 2056, causing the valine (V) at amino acid position 686 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
3billion RCV004720280 SCV005328809 likely benign 3M syndrome 2 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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