ClinVar Miner

Submissions for variant NM_194454.3(KRIT1):c.46C>T (p.Arg16Cys)

gnomAD frequency: 0.00002  dbSNP: rs370360812
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001160244 SCV001322030 likely benign Angiokeratoma corporis diffusum with arteriovenous fistulas 2017-10-15 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV001160245 SCV001322031 uncertain significance Cerebral cavernous malformation 2017-10-15 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics RCV002558516 SCV003535899 uncertain significance Inborn genetic diseases 2022-06-30 criteria provided, single submitter clinical testing The c.46C>T (p.R16C) alteration is located in exon 5 (coding exon 1) of the KRIT1 gene. This alteration results from a C to T substitution at nucleotide position 46, causing the arginine (R) at amino acid position 16 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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