ClinVar Miner

Submissions for variant NM_007373.4(SHOC2):c.355A>G (p.Ile119Val)

gnomAD frequency: 0.00009  dbSNP: rs147068827
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000466484 SCV000547945 uncertain significance RASopathy 2024-05-08 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 119 of the SHOC2 protein (p.Ile119Val). This variant is present in population databases (rs147068827, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SHOC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 181527). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SHOC2 protein function with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV000763645 SCV000894520 uncertain significance Noonan syndrome-like disorder with loose anagen hair 1 2018-10-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813417 SCV002060868 uncertain significance Noonan syndrome and Noonan-related syndrome 2016-12-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002262761 SCV002544461 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing SHOC2: BP4, BS2
Ambry Genetics RCV002336368 SCV002618819 uncertain significance Cardiovascular phenotype 2024-12-10 criteria provided, single submitter clinical testing The c.355A>G (p.I119V) alteration is located in exon 2 (coding exon 1) of the SHOC2 gene. This alteration results from a A to G substitution at nucleotide position 355, causing the isoleucine (I) at amino acid position 119 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV002262761 SCV005412235 uncertain significance not provided 2024-04-24 criteria provided, single submitter clinical testing

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