Submissions for variant NM_005334.3(HCFC1):c.5192A>G (p.Asn1731Ser)

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Minimum conflict level: Report conflict between different conditions
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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001985463	SCV002224568	uncertain significance	Methylmalonic acidemia with homocystinuria, type cblX	2021-10-12	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. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with HCFC1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with serine at codon 1731 of the HCFC1 protein (p.Asn1731Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine.
Revvity Omics, Revvity	RCV001985463	SCV003810681	uncertain significance	Methylmalonic acidemia with homocystinuria, type cblX	2022-04-02	criteria provided, single submitter	clinical testing

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