ClinVar Miner

Submissions for variant NM_020738.4(KIDINS220):c.2308G>A (p.Val770Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002821254 SCV003603586 uncertain significance Inborn genetic diseases 2021-12-07 criteria provided, single submitter clinical testing The c.2308G>A (p.V770M) alteration is located in exon 18 (coding exon 17) of the KIDINS220 gene. This alteration results from a G to A substitution at nucleotide position 2308, causing the valine (V) at amino acid position 770 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003679146 SCV004404964 uncertain significance not provided 2023-02-21 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with KIDINS220-related conditions. This variant is present in population databases (rs374637529, gnomAD 0.0009%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 770 of the KIDINS220 protein (p.Val770Met).

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