ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.1279A>G (p.Asn427Asp)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002713762 SCV003566646 uncertain significance Inborn genetic diseases 2021-07-20 criteria provided, single submitter clinical testing The c.1279A>G (p.N427D) alteration is located in exon 6 (coding exon 4) of the MKKS gene. This alteration results from a A to G substitution at nucleotide position 1279, causing the asparagine (N) at amino acid position 427 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004538863 SCV004116416 uncertain significance MKKS-related disorder 2022-10-12 criteria provided, single submitter clinical testing The MKKS c.1279A>G variant is predicted to result in the amino acid substitution p.Asn427Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-10386329-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Fulgent Genetics, Fulgent Genetics RCV005028355 SCV005663372 uncertain significance McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 2024-02-29 criteria provided, single submitter clinical testing

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