ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.1085A>G (p.His362Arg)

gnomAD frequency: 0.00002  dbSNP: rs373858682
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001922911 SCV002183513 uncertain significance Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2024-10-08 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 362 of the MKKS protein (p.His362Arg). This variant is present in population databases (rs373858682, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MKKS-related conditions. ClinVar contains an entry for this variant (Variation ID: 1411748). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MKKS protein function. 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 RCV002478377 SCV002781361 uncertain significance McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 2022-04-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002556314 SCV003717400 uncertain significance Inborn genetic diseases 2022-01-26 criteria provided, single submitter clinical testing The c.1085A>G (p.H362R) alteration is located in exon 4 (coding exon 2) of the MKKS gene. This alteration results from a A to G substitution at nucleotide position 1085, causing the histidine (H) at amino acid position 362 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
3billion RCV002478377 SCV005328853 likely benign McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 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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