ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.344C>T (p.Ala115Val) (rs397515485)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000057506 SCV001584879 pathogenic Mental retardation 3, X-linked 2018-06-30 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 115 of the HCFC1 protein (p.Ala115Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with cobalamin X deficiency (PMID: 24011988, 28363510). ClinVar contains an entry for this variant (Variation ID: 66984). Experimental studies on zebrafish embryos have shown that this missense change has a detrimental effect on the proliferation and differentiation of neural precursors (PMID: 28449119). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000057506 SCV000088618 pathogenic Mental retardation 3, X-linked 2013-09-05 no assertion criteria provided literature only

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